Science teacher Melissa Villanueva created a rap to teach her students at
Marie Curie High School in the Bronx about Sickle Cell Anemia, and she says it's
working.
Many of her fellow teachers are also trying this creative way of capturing the
attention of their young students. The teachers say Hip Hop rhymes and language
help the students learn faster.
San Diego State defensive lineman Eric Ikonne spent a week in the hospital
last month after collapsing during a football workout because of overexertion.
He developed kidney trouble and a serious condition called rhabdomyolysis – the
rapid breakdown of muscle tissue starved of blood. Both are classic emergency
symptoms of “exertional sickling,” the leading cause of death in college
football this decade. After leaving the hospital, Ikonne, 21, still had
trouble recovering his strength, but a recent visit to the doctor showed he's
now OK.
“He's much better,” said his mother, Esther. It's a happy ending to
what became a dangerous situation.
Like 1 in 12 African-Americans, Ikonne has sickle cell trait, which makes him
susceptible to breakdown during high-intensity workouts. Many athletes who have
it still can participate in sports without incident, including NFL players. They
just need to take a little extra precaution during high-intensity workouts.
Otherwise the results can be tragic: seven NCAA football players this decade
have died because of it, including Central Florida's Ereck Plancher last year
and Florida State's Devaughn Darling in 2001.
Those deaths happened in workouts, not in games, which has led the National
Athletic Trainers' Association to spread awareness in recent years. Most deaths
or collapses resulting from exertional sickling are preventable. They usually
happen because of ignorance of the issue. “We find a great need to share
and enact precautions that can expand the margin of safety for players,” said
Scott Anderson, a University of Oklahoma trainer who co-chaired a task force on
the issue. Many teams keep lists of athletes who have the trait. They take
simple precautions such as giving them extra recovery time or not pushing them
as hard in workouts.
SDSU Athletic Director Jeff Schemmel said he didn't know enough specifics to
comment on the subject and referred questions to Aztecs medical staff.
SDSU athletics spokesman Mike May said they wouldn't comment on what happened.
Eric Ikonne could not be reached, and May said the school wouldn't make him
available to talk about it yesterday.
Ikonne inherited the trait from his mother. It is a benign condition and not
a disease. But there is grave risk for athletes who overexert themselves. In
those cases, red blood cells change from round to a C-shaped or sickle-shaped
cell. This can led to a logjam in blood vessels and leads to collapse from
blood-starved muscles. The sickle gene can help defend against malaria and
is common in people originating from areas where malaria is widespread. Ikonne's
family is from Nigeria. The condition is screened for at birth in the
United States. It's just a matter of being aware of it.
“If they're going to run stadium steps or run hills in the offseason, there
has to be consideration of it and periods of rest and recovery,” Anderson said.
“If symptoms progress, it becomes a true medical emergency.” After
recovering, Ikonne plans to return to football as a junior, his father, Bernard,
said. Ikonne started two games last year and made 24 tackles and had 4½ sacks.
His father said Eric does not blame SDSU for his collapse. “If anybody
works him too hard, it's himself,” Bernard Ikonne said. “Eric complained last
season that the former coach wasn't serious and he got upset each time they lost
because he felt the coach should have put down his foot. He's not not very good
at losing. . . . That upset him more than anything.”
Gabriel George doesn't spend time feeling sorry for himself.
The 10-year-old Hutto boy — who is the national poster child for the Sickle
Cell Disease Association of America — plays violin and enjoys Hot Wheels. He
reads, rides his bike and takes pictures with his digital camera. And
occasionally, he meets with the president. Last week, Gabriel, his mother and
sickle cell advocates visited President Barack Obama in the Oval Office to
discuss the disease. "He was very nice and he was funny," Gabriel said of Obama.
"He joked about things. He gave me a postcard and he signed it."
Gabriel, who attends Ray Elementary in Hutto, was diagnosed with the disease
when he was 3 weeks old . Unlike many others with the disease, Gabriel has been
relatively healthy. Many children his age have had multiple strokes because of
the illness, and others have had to have frequent blood transfusions, said
Shelly George, Gabriel's mother.
The disease badly affects his lungs, so Gabriel doesn't play sports and uses
an inhaler for his asthma. But until last summer, he had only experienced
periodic episodes of serious pain. Then he contracted acute chest syndrome (a
severe lung problem) and required intense medical care.
He was in Dell Children's Medical Center of Central Texas for six days.
Doctors worried that he would die.
"It was very hard," Gabriel said. "The doctors didn't think I was going to
make it, but I did by the grace of God."
George attributes her son's overall good health to God and his diet. Gabriel
drinks plenty of water and other fluids that seem to keep his blood flowing more
easily. He is also a vegetarian, avoids junk food and gets lots of rest. Gabriel
hit the public awareness circuit years ago. He was 2 years old when he became
the sickle cell poster child for the Blood and Tissue Center of Central Texas.
Since then, he has spoken to thousands of people about the disease. He has a
five-page resume detailing his speaking engagements, honors and awards.
Gabriel connects with his audiences because he's articulate and has a
positive attitude, said Nicolette Abernathy , community relations manager for
the Blood and Tissue Center. He's talked to a wide range of groups, such as
medical professionals and high school students. "He is something special,"
Abernathy said.
Almost two years ago, Gabriel was tapped as the 2007-2009 public face of the
disease for the Sickle Cell Disease Association of America. Since then, he's
traveled across the country to talk about the illness. Last week, he went to
Washington to talk to senators, members of Congress and the president himself.
The two chatted about the $2 bills Gabriel collects and about the owl ceramic
figures Gabriel brought for the president's daughters. Obama also complimented
Gabriel's suit. The pair posed for pictures.
The president said he was proud of Gabriel for bringing awareness to the
disease, George said. "I want to let you all know that the only reason I'm
meeting with you is this young man," George recalls Obama saying. The president
promised to help improve the quality of life, fund research and find a cure for
those suffering with the disease, George said.
Gabriel knows he's lucky to be healthy, but he wants people to know not
everyone is that blessed. "It's a really serious disease," he said.
President Barack Obama signed an executive order on Monday
to reverse the ban on federally funded embryonic stem cell research established
by President George W. Bush. Obama fulfilled a campaign promise in a signing
ceremony before a packed East Room audience at the White House. With the
signing, the federal government’s primary agency for medical research, the
National Institutes of Health (NIH), no longer is restricted from offering
federal tax dollars to scientists who want to study stem cells derived from
human embryos.
Obama leaves decisions regarding how funds are dispersed to
the discretion of the NIH, which must rewrite its research guidelines within
four months. (The agency was dealt an extra $10 billion in the president’s
stimulus plan, mainly for science grants.) Scientists who use federal grants
still do not have the authority to create their own stem cell lines, due to a
piece of legislation called the Dickey-Wicker amendment that has been renewed by
Congress every year since 1996. The amendment bars NIH money from being used to
create embryos or to conduct research in a way that knowingly harms them, so
labs must work with stem cells that are extracted by a third party. But there
are rumblings that the Democrat-controlled Congress may try to remove the
Dickey-Wicker amendment. On Sunday, Rep. Diana DeGette, D-Colo., said she’ll be
speaking with her colleagues about the amendment and that she’ll confer with the
White House about how to write Obama’s stem cell policy into law, eliminating
the possibility that a future president might reverse it.
In fact, the host of “Celebrity Apprentice” (season two debuting Sunday on
NBC at 9 p.m.) had trouble pronouncing Atlanta’s own Tionne “T Boz”
Watkins’ first name. Watkins said he kept saying “T-own” instead of of
the proper “T-on.” So after awhile, he just called her “T.”
Hip hop “is probably not part of his world,” she mused in a phone interview
Tuesday.
But Watkins said she did not go out of her way to kiss his tuckus. Plus, “I
didn’t Omarosa it,” she said, turning one of the most infamous “Apprentice”
contestants of yore into a verb. Compared to the likes of Andrew “Dice” Clay and
Dennis Rodman, “I made boring TV.”
Rather, she focused on making sure the Sickle Cell Foundation was front and
center, not her ego. What makes her charity hit so close to home is she was born
with Sickle Cell and has had to cope with the fatigue and a weak immune system
all her life.
Reebok and Super Bowl XLIII MVP Santonio Holmes today jointly announced a
charitable auction through Reebok.com. The auction features the Reebok NFL Pro
Lite Fade gloves that Holmes wore to catch the game-winning touchdown in Super
Bowl XLIII, which Holmes has autographed. All proceeds from the auction will
benefit the Sickle Cell Disease Association of America, Inc., an organization
that aims to improve the quality of health, life and services for those affected
with sickle cell disease, while promoting the search for a cure.
Fans have the opportunity to bid on the gloves beginning Thursday, Feb. 5th
by going to www.reebok.com. The auction will end at 9:59 p.m. ET, Feb. 15th, two
weeks to the moment after Holmes Super Bowl-clinching catch, which is being
dubbed the "Immaculate Extension."
Holmes' six-year-old son, Santonio III, has been diagnosed with sickle cell
anemia, a lifelong incurable disease that causes the body to make sickle-shaped
red blood cells that impedes the flow of blood through blood vessels.
"The joy of being a Super Bowl Champion and MVP is great, but nothing
compares to the joy of being a father," said Holmes. "I am so proud to be able
to help those who struggle on a daily basis with this disease, and I hope the
Sickle Cell Disease Association of America will use this money to help others
impacted by the disease and hopefully lead to finding a cure."
"At Reebok, we are proud to support our athletes and their charitable
endeavors," said Todd Krinsky, VP, Sports and Entertainment Marketing, Reebok. "Santonio's
Super Bowl heroics offer a great platform to raise awareness for a worthwhile
cause, and we re pleased to be working together to help provide a vehicle for
the effort to find a cure."
"Santonio Holmes' heart is as great as his athleticism," said Dr. Willarda V.
Edwards, President and Chief Operating Officer of Sickle Cell Disease
Association of America, Inc., headquartered in Baltimore, Md. "This selfless
gesture on behalf of his son and Sickle Cell Disease says a lot about the man
both on the field and off. We applaud both him and Reebok for the awareness this
gesture will bring to the disease as we continue our commitment to improve the
lives of those affected by this devastating disease and to seek a cure."
Dr. James Eckman is trying to organize collaboration among
the states in the Southeast to exchange ideas and address problems that are
common to sickle cell disease in our region. The first meeting will be in
conjunction with the National Sickle Cell Meeting in Fort Lauderdale next week.
The meeting is schedule in the Bahia Mar Beach Resort Yachting Center, Mariner
Room. On Tuesday, February 17th from 9 AM to Noon. The topics
for discussion are: 1) Utilizing primary care to improve care of adults; 2)
Transition from pediatric centered care to adult centered care; and 3) long-term
follow-up of individuals with sickle cell disease and carriers detected in
newborn screening. There will also be a meeting scheduled in conjunction
with the Annual SERGG Meeting to be held in Asheville NC August 6 through 8.
Sorry for the late notice, but if you are going to be at
the meeting next week please consider joining us. Individuals from Federal
Region 3 are especially encouraged to join us. Jim Eckman
We can’t promise everything but want to make it as much
better as possible given our resources. Thank you for you interest in
sickle cell disease. Jim Eckman
Shernett Martin, a resident of Woodbridge who has been battling sickle cell
disease since birth, spoke to a group of students this week at Dufferin Clark
Library as part of February's Black History Month celebrations.
Ms Martin is not only an accomplished children's author, but this middle
school teacher-librarian has lived a story of ongoing struggle with a disease
that threatened to take her life on numerous occasions. Determined to
achieve her goals, this 38-year-old vows to remain authentic to those she's
committed to.
"I was weaving my dream, connecting myself to the hope that I had. Had I
quit, I never would have met those kids. Had I quit, I never would have had the
experience with those kids," Ms Shernett said of the children she's met in
Canada and abroad over her years of teaching and raising awareness about sickle
cell disease.
Although the disease is found all over the world, it predominantly affects
the black community. As a result of her disease, Ms Martin has already suffered
from a heart attack, vision impairment, a hip replacement, a coma and a
stroke.But she refuses to give up.
"It's not about what I have, but what I do in spite of what I have," she
said. "I'm not giving up and I'm not going to let this disease define me."
Although she read her book, My Friend Chantal Has Sickle Cell Disease, to
students from St. Joseph the Worker Catholic Elementary School, Ms Martin said
the presentation isn't about her accomplishments. It is a vehicle to get her
story told.
"You're here for a purpose. You have to dig deep in yourself and weave that
dream you have for yourself and find the strength to persevere," she said.
Although Ms Martin doesn't want to compare herself to the legends we read
about in black history, she says her story is born of the same theme - struggle.
"Black history is struggle, it's hope, it's dreams. My simple story says that
no matter what the situation, if you have a dream within yourself and if you
start to fan that flame, then things can happen," Ms Martin said.
"Think about your dream, withstand those odds, stand up against adversity,
jump through those hurdles and make your life count. And when you make it count,
look over your shoulder and give back."
And she's doing just that.In addition to her children's book, Ms Martin is a
workshop developer and avid volunteer, mentoring youths with sickle cell
disease. She has founded the Shernett Martin Scholarship Fund, which gives
students with the disease a chance to go to university. She is also the
recipient of the 2005 African Canadian Achievement Award for Community Service.
An impressive record in which she credits much of her achievements to her "tough
love mum".
At Ms Martin's lowest, her mother told her, "You can't say why you? Why not
you? You can either stick it out, tough it out and get through it or throw in
the towel," Ms Martin told the students. And she lives everyday remembering her
mother's words and passing on the same message to her students.
She said whether it's Barack Obama or Nelson Mandela - whose biographies were
on display beside the author - students must remember to go against everything
to achieve their dreams.Forty per cent of black students in Toronto don't
graduate, Ms Martin said.
"To look at (those students) and say you don't even have an illness, you've
never been sick, you've never been hospitalized and I graduated. What's your
excuse? If I can do it, then you can do it and I hope that's inspirational to
them," she said.
When he was three years old, Bruce Blount of Throggs Neck
was diagnosed with Sickle Cell Disease. When he was 18, Blount joined Montefiore
Medical Center’s innovative Sickle Cell clinic. Approximately one in 400
African-American children is born with Sickle Cell, an inherited blood disorder.
Blount, 48, was supposed die at 21. Instead, he earned a Master’s degree.
“I’m living proof that the clinic works,” Blount said.
On January 9, Montefiore’s adult Sickle Cell day and night clinic abruptly shut
its doors. The clinic served 1,000 patients. Blount is devastated. Dr. Lennette
Benjamin, a hematologist, founded the clinic in the early 1980s, Blount said.
“Montefiore’s clinic developed an effective way to care for patients,” said
Donnette Carroll, an advocate for New Yorkers with Sickle Cell. “A way to
minimize the excruciating pain.”
Montefiore’s Sickle Cell clinic operated by way of a National Institutes of
Health grant – just $1 million per year. In December, Montefiore executives
informed Benjamin they’d be closing the clinic due to lost funding. Letters from
Montefiore dated December 30 alerted a percentage of the clinic’s patients.
The clinic consisted of six beds and four doctors, all Sickle Cell Specialists.
It was open Monday to Thursday, 9 a.m. to 5 p.m. and 8 p.m. to 12 a.m., and
Friday 9 a.m. to 5 p.m.
Montefiore now runs a two-bed Sickle Cell office on Tuesdays and Thursdays.
Patients in crises are expected to visit one of the medical center’s emergency
rooms.
Iris Cotto, 32, began at Montefiore seven years ago. The clinic has allowed her
to spend more time at work and with her family.
According to Cotto, emergency room staffers underestimate how painful the
disease can be. In December, Blount waited 20 hours for a hospital bed.
“If I go to the ER and ask for 250 milligrams of Demerol, the doctor will tell
me I’m crazy,” said Blount. “But pain management is key. That’s how much Demerol
I need.”
Candice Deler, 33, of Paul Avenue, experiences approximately one severe crisis
each week. When Montefiore’s clinic was open, Deler would show up for
intravenous fluids and pain relief.
The next nearest adult Sickle Cell clinic is in Kings County. When Deler
experiences a severe crisis, she flails and screams.
“I can’t make it to Brooklyn,” she said. “It’s too far.”
Because it disproportionately affected African-Americans, some people consider
Sickle Cell a “black disease.”
“Montefiore just built executive offices next to the clinic,” Blount said.
“Cherry wood, leather furniture. There’s racism involved. Why else close
something so beneficial?”
On January 20, Community Board 7 voted to support Montefiore’s Sickle Cell
patients.
“These changes were made necessary due to a drastic cutback in NIH funding for
Sickle Cell programs across the country,” said Montefiore spokesman Michael
Quane. “In these difficult financial times, Montefiore maintains its strong
commitment to continue its Sickle Cell services.”
Global Sickle Cell Alliance, Inc (GLoSCA) is seeking
volunteers in all health care fields (Nurses, Physicians, Social workers,
Laboratory personnel, Public health, Pharmacist, Community leaders and educators
(CBO), etc) to participate in its ongoing international health care mission
activities. The first trip in December 2008 was a success and has generated more
interest in meeting the enormous needs of the people living with sickle cell
disease (SCD) and its complications. In addition to medical supplies including
medications, we will appreciate your tax deductible donations to purchase
medicated mosquito nets for patients with SCD.
The second trip to Nigeria is scheduled for March 20 – 27,
2009. The next trip/s in 2009 is yet to be scheduled. GLoSCA and its
international collaborators are currently able to provide volunteers with local
transportation, accommodation, and food but the volunteer will be responsible
for the international fare (approximately $1350-$1500). Please visit our website
at
www.glosca.org for more information.
As Utah Jazz basketball player Carlos Boozer and wife CeCe
investigated ways to save their son from sickle-cell anemia, they found a
procedure that would not only reverse his disease, but give them more children
born free of the fatal disorder.
Within a five day window, and that's all they have, in vitro experts genetically
screen the embryos looking not only for those compatible for a later stem cell
transplant into Carmani Boozer who already had the disease, but embryos that
could be transferred back in to CeCe free of the sickle cell gene.
The Boozers got the best of both worlds last year. Healthy sickle cell-free
twins were born and stem cells taken from their discarded umbilical cords were
transplanted into Carmani curing him of the disorder.
The only way to know for certain whether a new treatment will
help or harm people with a particular condition is to conduct a clinical trial. This is a formal way of
looking at treatments to determine whether and how well they work, for whom they
are appropriate, and how many side effects they cause. The NHLBI has been the
home for SCD clinical research since the late 1960s, and has conducted a number
of landmark trials that demonstrated the effectiveness of:
Standardizing Sickle Cell Care
- Translating Research to Clinical Practice
MEMORIAL HEALTHCARE SYSTEM
HOSTS COMBINED THIRD ANNUAL SICKLE CELL DISEASE SYMPOSIUM AND NATIONAL
SCIENTIFIC MEETING
(Hollywood, Fl.)
In February 2009,
Memorial Healthcare System will be hosting a five-day symposium, combined with
the Annual National Scientific Meeting and Grant Writing Institute that will
gather the most influential clinicians involved with sickle cell disease care,
alongside some of the top researchers in the field. The symposium -- open to
the general public and the medical community for a registration fee -- will
present leading-edge topics regarding the potential efficacy of drug
combinations as treatments for sickle cell disease and other new perspectives
on sickle cell disease treatment. A variety of current research findings are
also slated for presentation and discussion.
“We have reached a juncture in sickle cell disease
care where scientists, researchers and physicians and other care providers are
increasing their collaborative efforts to tackle this disease,” said Dr.
Lanetta Jordan, director of sickle cell services at Memorial Healthcare
System. “We are excited about the leaps in scientific research that have been
accomplished to advance the care and treatment of sickle cell disease. In the
long run, the beneficiaries of this amazing research will be our patients, and
the challenge now is bringing it from the bench to the bedside.”
The roster
of guest speakers includes Drs. Danny Armstrong, James Eckman, Iftikhar Hanif,
Kathryn Hassell, Clint Joiner, Peter Lane, Martin Steinberg, Kwaku
Ohene-Frempong, Lennette Benjamin, Kim Smith-Whitley, Elliott Vichinsky and
Dr. Winfred Wang.
Combined Third
Annual Sickle Cell Disease Research and Educational Symposium & Grant Writing
Institute (GWI) Annual National Sickle Cell Disease Scientific Meeting
February 15-February 20, 2009, Bahia Mar Luxury Resorts & Hotels
801 Seabreeze Boulevard Fort
Lauderdale, Florida
Feb.
15-17 Grant Writing Institute 9 a.m. to 5 p.m.
Feb. 16-18
Collaborative Research and Advocacy Group meetings 9 a.m. to 6
p.m. and 6 p.m. to 10 p.m.
Feb.
18-19 Symposium and Scientific Meeting 7:30 a.m. to 5 p.m.
For more
information see
https://secure4.rwhost.net/floridasickle/index.php?sec=1016
To register
https://secure4.rwhost.net/floridasickle/index.php?id=1023
NIH - NHLBI announces Sickle Cell Disease Workshop: Clinical Priorities and Clinical Trials
October 22-24, 2008
In March, 2008, NHLBI announced a recommitment to research in sickle cell
disease. With advice from stakeholders in the lay and professional communities,
the NHLBI Advisory Council reviewed the current research portfolio and
scientific opportunities, and recommended an aggressive program to bring new
technologies and approaches to improve the lives of persons with sickle cell
disease. NHLBI is committed to expanding the scope of inquiry in this disease,
to include investigators in relevant disciplines that have not previously been
involved in sickle cell disease research. This expansion in scientific reach
will need to be matched by a parallel effort to extend clinical research
opportunities to a much wider spectrum of subjects and investigators than
previously.
With limited resources, it will be vital to set priorities for the next
generation of clinical trials. Workshop attendees will address two interrelated
questions:
- What are the most important phase II and phase III clinical studies that
need to be conducted in areas that have been identified as high priorities for
sickle cell disease?
- What is the best organization structure for these clinical trials that
will ensure the maximum participation by subjects and investigators?
The clinical research priorities discussions will be initiated by eight
sub-committees, each of which will be dedicated to a high-priority area of
research, as identified by the NHLBI Advisory Council. These Sub-committees will
be composed of investigators from outside and inside the sickle cell community.
Recommendations developed by the Sub-committees during meetings prior to the
Workshop will be presented.
The clinical trials discussion will draw on the expertise of senior
investigators in oncology, HIV disease and asthma. These senior investigators
will present their experience with regard to recruitment of clinical sites,
prioritization of clinical protocols, and their track records for study
completion and publication.
Breakout sessions and question-and-answer periods will allow attendees to
present their views.
Attendance will be limited to 250 individuals.
Workshop Chair
Kwaku Ohene-Frempong, MD, Professor of Pediatrics, University of Pennsylvania
School of Medicine
Confirmed Speakers
- Robert Adams, MD, Professor of Neuroscience, Director, Stroke Center,
Medical University of South Carolina
- Mark Batshaw, MD, Professor and Chairman, Pediatrics, Director, Children's
Research Institute, Children's Hospital National Medical Center, George
Washington University School of Medicine and Health Sciences
- Andrea Denicoff, RN, MS, CANP, Division of Cancer Treatment and Diagnosis,
NCI, NIH
- David Dilts, PhD, MBA, Professor of Operations Research, Owen Graduate
School of Management, Co-Director, Center for Management Research in
Healthcare, Vanderbilt University
- George Dover, MD, Professor and Chair, Department of Pediatrics, Johns
Hopkins Medical Center
- Willarda Edwards, MD, MBA, President, Sickle Cell Disease Association of
America
- Mark Gladwin, MD, Professor of Medicine, Chief, Division of Pulmonary,
Allergy, and Critical Care Medicine, University of Pittsburgh
- Johnson Haynes, MD, Professor of Medicine, Division of Pulmonary and
Critical Care Medicine, University of Southern Alabama Medical Center
- Elliot Israel, MD, Director, Asthma Research Center, Brigham and Women's
Hospital, Associate Professor of Medicine, Harvard Medical School
- Michael Lauer, MD, Director, Division of Prevention and Population
Sciences, NHLBI, NIH
- Donna Marinucci, Director of Operations, Eastern Cooperative Oncology
Group, Vice President of Operations, Coalition of Cancer Cooperative Groups
- Scott Miller, MD, Professor of Clinical Pediatrics, SUNY-Downstate Medical
Center
- James Neaton, PhD, Professor of Biostatistics, University of Minnesota,
Principal Investigator, International Network for Strategic Initiatives in
Global HIV Trials (INSIGHT).(NIAID)
- Alan Schechter, MD, Chief, Molecular Biology and Genetics Section, NIDDK,
NIH
- Jon Scheinmann, MD, Professor of Pediatrics, Chief, Pediatric Nephrology,
University of Kansas Medical Center
- Wally Smith, MD, Professor of Medicine, Chair, Division of Quality Health
Care, Virginia Commonwealth University
- Mark Walters, MD, Director, Blood and Bone Marrow Transplantation Program,
Children's Hospital Oakland Research Institute
- Russell Ware, MD, PhD, Chair, Department of Hematology, St. Jude
Children's Research Hospital
- Roy L. Silverstein, MD, Professor of Molecular Medicine, Chair, Department
of Cell Biology, The Cleveland Clinic Foundation
Organizing Committee
- Susan Shurin, MD, Deputy Director, NHLBI, Acting Division Director,
Division of Blood Diseases and Resources.
- Harvey Luksenburg, MD, Medical Officer, Division of Blood Diseases and
Resources, NHLBI
Initiatives from NHLBI: what, when, why and how they appear.
Over the
years, NHLBI has found that investigator-initiated projects have the highest
productivity. The Institute is selective in issuing funding opportunity
announcements (FOAs) which have set-aside funding, and does so when specific
needs are identified which require Institute leadership. About 75% of the
NHLBI’s extramural funding goes to investigator-initiated proposals. NHLBI
scientific staff, in conversation with the investigators with whom they work,
and may hold a workshop to develop a specific agenda or start with advice
obtained in the course of ongoing work. Ideas are developed and turned into
initiatives, which means that there is an action plan and a budget, going
through an extensive vetting process within the Institute. These are presented
to the Board of External Experts, a group of 30 accomplished senior NHLBI
investigators, who meet twice a year to help NHLBI set the scientific agenda.
The BEE makes excellent suggestions which are incorporated into the projects,
and rank orders both new and renewal projects. Renewals are judged largely on
previous productivity and success, and plans for changes adapting to new
science and circumstances. All initiatives, including renewals, issued by
NHLBI must be approved by the NHLBI Advisory Council.
The BEE and
Council have been intimately involved in and are very enthusiastic about
NHLBI’s recommitment to sickle cell research. The enthusiasm for renewed
investment in sickle cell research is shared by members across disciplines;
the level of support of all members is very encouraging. The NHLBI Advisory
Council approved two projects in June, 2008:
Exploratory Studies in the
Neurobiology of Pain in Sickle Cell Disease, an RFA which will appear shortly
in the NIH Guide.
This will apply the gamut of
investigative modalities used by neuroscientists in the field of pain research
to the understanding of pain in sickle cell disease. During the past two
decades, the study of the neurobiology of pain has led to a greater
understanding of pain generation and processing at the cellular, molecular and
systems level. Sickle cell disease, perhaps uniquely among human illness, is
characterized by severe acute and chronic pain beginning in infancy and
lasting throughout the lifespan. Neuroscientists and hematologists, together
with psychologists, pharmacologists, anesthesiologists and geneticists, are
encouraged to develop integrated programs. The objective of these initial
studies is to generate hypotheses that will form the bases of future endeavors
that may lead to greater understanding of the pathophysiological mechanisms of
pain and the delineation of potential therapeutic targets.
NHLBI-CDC Registry and Surveillance
System in Hemoglobinopathies (RuSH), and interagency agreement which should be
issued within the next few months.
Develop and implement a national
data system and biospecimens repository that will provide data to describe the
epidemiologic and clinical characteristics of people with sickle cell disease,
thalassemias (α and β), and hemoglobin E disease. The system will be designed
to collect, analyze, interpret, and disseminate state-specific data on the
epidemiology, clinical correlates, health care utilization, and community
resources of patients with these conditions. It will support research,
information dissemination, policy decisions, health care planning, and
provider training at the local, state and national levels. The initiative is
an interagency agreement between the NHLBI and the Centers for Disease Control
and Prevention (CDC) and will begin with the carrying out of pilot studies by
the CDC in seven states.
The BEE met in
September and recommended projects to go to Council in October, 2008. Updated
information on these projects will be provided as soon as they are approved by
Council. The Division of Blood Diseases and Resources expects to bring two to
three initiatives in the areas of sickle cell disease and hemoglobinopathies
to each of three annual Council meetings for the next several years.
As always, R01
proposals are welcome.
New
RFP-
--
The Sickle Cell
Disease Association of America, Inc. (SCDAA) is pleased to announce
that
Lanetta B. Jordan, MD, MPH, MSPH, Director of
Sickle Cell Services at Memorial
Healthcare System/South Broward Hospital District Hollywood, Florida
has been selected as Chief Medical Officer
for the National Organization.
Dr. Jordan brings immeasurable knowledge and experience to SCDAA as a
physician dedicated to improving the quality of life, health, programs and
services for youth and young adults with disabilities and individuals with
sickle cell disease and related conditions.
“SCDAA
is fortunate to have someone of Dr. Jordan’s caliber and stature in the sickle
cell community to take the helm of the Chief Medical Officer position,”
states Willarda V. Edwards, MD, MBA, President and COO of the National
Organization.
|
New Book About Sickle Cell Disease
"Sickle"
by Dominique Friend
|
 |
"Sickle" is a book written by
Dominique Friend about her personal experiences living with Sickle
Cell Disease. It's purpose is to encourage, uplift, and bring forth awareness
to a disease that affects almost 1 in 500 African Americans. Dominique has
captured in writing the very essence of what it is like to find purpose
inspite of pain, transfusions, medicines, and emergency room visits. Her
story will inspire others to speak out and gain confidence "that the battle
against this disease does go on." This book is truly a must have for all
those affected by Sickle Cell Disease. "Family members and medical
professionals involved with fighting this illness will develop an even better
sense of compassion and sensitivity for those who suffer." Visit Dominique at
www.sickle.us and help to spread the word by sharing your story!
New Adult Sickle
Cell Patient Stress and Pain Study
New web based study is actively recruiting and enrolling adult patients for
stress and pain research study.
The main goal of this descriptive/correlation study is to describe, from the
patients'
point of view the frequency and severity of pain and non-pain related
stressors/hassles
encountered as an adult living with sickle cell disease. To participate or
learn more about the study visit
http://www.scdstresstudy.com/
HRSA and NMDP Launch New Related
Donor Cord Blood Program
Program estimated to benefit up to
5,000 families per year Patients with a medical condition that
could be treated by a cord blood transplant may benefit from a new
program offered by the U.S. Health Resources and Services Administration
(HRSA) and the National Marrow Donor Program (NMDP).
Cord blood offers an additional option to
bone marrow in transplant therapy. Through the Related Donor Cord Blood
Program, the families of these patients can have the cord blood of a new
baby collected and stored at no cost by one of the participating cord
blood banks. The cord blood may then be used to treat the affected
biological sibling who has the diagnosed disease, which can include
leukemia, lymphoma, a sickle-cell disorder, an immune deficiency or a
metabolic disease.
"Cord blood collected at the time of birth
may offer another treatment option for a sibling diagnosed with various
conditions," said Dr. Jeffrey W. Chell, NMDP chief executive officer.
"Physicians nationwide acknowledge that cord blood is a source of the
rich, blood-forming cells needed by transplant patients."
Congress recognized the importance of cord
blood by passing the Stem Cell Therapeutic and Research Act in 2005. The
Act authorized the Related Donor Cord Blood Program, a three-year
demonstration project in which participating and qualified cord blood
banks collect and store cord blood at no cost to eligible families.
Sickle cell disease
is spreading through the UK
It's one of the most underresearched
diseases prevalent in the UK and it is spreading throughout the country
http://www.timesonline.co.uk/tol/life_and_style/health/features/article4790785.ece
There are estimated to be between 12,500 and
15,000 people in the UK with the disease and more than one in nine of the
population are carriers. In the main, sickle cell is found in people whose
families come from the Caribbean, Africa, the eastern Mediterranean, the
Middle East and Asia, but carriers are also being found in the white
population as a result of intermixing many generations ago.
Although numbers are very low, they indicate
that sickle cell disease can no longer be regarded as confined to specific
sections of the population and highlight the importance of antenatal and
newborn screening.
The NHS's newborn screening programme, which
has covered the whole of England since 2006, shows that sickle cell is
increasingly present anywhere in the country and not just confined to areas of
London and the West Midlands, where Afro-Caribbean families have traditionally
settled. There are, however, still high concentrations in certain London
boroughs such as Lambeth, Lewisham and Southwark where there are an estimated
3,000 cases, 600 of them children.
The Sickle Cell Unrelated
Transplant (SCURT) research study
The Sickle Cell Unrelated Transplant (SCURT)
research study is a Phase II, multi-site clinical trial that will start
accepting qualified patients later this month.
Currently, marrow or blood stem cell transplantation is the only potential
cure for severe SCD. Most people with SCD who have undergone a transplant have
received stem cells from family members, usually siblings. In this nationwide,
multicenter clinical trial, researchers will evaluate the role of unrelated
donor transplants in treating severe SCD and the effectiveness of a
less-intensive regimen of chemotherapy to prepare patients for transplant.
SCD causes blood cells to clump together, which can block blood vessels. This
blockage can damage the brain, bones, muscles, lungs, kidneys, liver,
intestines and other organs and cause excruciating episodes of pain. Over
time, people with SCD can experience permanent damage to vital organs and even
sudden death. The study seeks to enroll 45 children ages 3-16 with symptoms of
severe SCD, such as strokes, frequent pain crises or episodes of severe lung
problems. Those who meet the eligibility requirements will receive a bone
marrow or umbilical cord blood transplant from a suitably matched, unrelated
donor to replace their own red blood cells.
Shalini Shenoy, M.D., medical director of the pediatric bone marrow transplant
program at St. Louis Children's Hospital and Naynesh Kamani, M.D., of
Children's National Medical Center in Washington, D.C. will serve as the lead
transplant physicians for the SCURT trial. The multi-site trial will also
include at least 20 other medical institutions across the United States.
"Doctors have performed related donor blood cell transplants to treat SCD, but
few unrelated donor transplants have been preformed nationally" said Shenoy.
"Although the overall success must be demonstrated, preliminary results have
shown that most patients tolerate the treatment well, which compelled us to
start this national trial."
Unrelated donor bone marrow and cord blood transplant is a proven treatment
for leukemia, lymphoma and many other diseases. Overall, people in need of a
bone marrow transplant have a 30 percent chance of finding a matched donor
within their family. Those without a family donor can turn to the National
Marrow Donor Program to search for an unrelated adult donor or cord blood
unit.
With SCD, only 14 percent of potential transplant recipients find an
appropriate matched donor within their family. Because SCD is inherited, there
is a greater likelihood that other family members have SCD, which prevents
them from being donors.
"Examining the success of unrelated donor transplants in treating SCD can
potentially offer a matched unrelated donor and a curative treatment option,"
said Richard Labotka, M.D., a representative of the Sickle Cell Disease
Clinical Research Network (SCD CRN) and director of the Pediatric Sickle Cell
Program at the University of Illinois. "If the clinical trial results reflect
the initial data we've seen, many more SCD families may be able to take
advantage of an important treatment option that was not previously available
to them."
Children in this trial will receive lower doses of chemotherapy than currently
used for SCD transplants to reduce the treatment side effects. The study
participants will be followed for two years after their transplant to
determine whether they have been cured of SCD and assess the side effects from
the transplant procedure.
The trial is facilitated by the Blood and Marrow Transplant Clinical Trials
Network (BMT CTN) and is funded by multiple organizations, including the
National Heart, Lung, and Blood Institute; National Cancer Institute; National
Marrow Donor Program; Sickle Cell Disease Clinical Research Network (SCD CRN)
and the National Center on Minority Health and Health Disparities. Potential
transplant candidates and their families can visit
http://www.marrow.org for more information. Referring physicians can visit
http://www.bmtctn.net. Also see
http://clinicaltrials.gov/ct2/show/NCT00745420
NIH Backs Search for Unique Sickle Cell
Treatment
Center's Director Hopes New Drugs Boost Key
Protein to Control Symptoms
The National Institutes of Health (NIH)
awarded Dr. Betty Pace and the
Sickle Cell Disease Research Center (SCDRC) an award totaling $1.5 million
over four years. The funding allows the SCDRC to explore the exciting
possibilities that fetal hemoglobin (HbF) can offer to patients who suffer
from the pain and agony of sickle cell disease.
Pace, who directs the SCDRC, said research
shows that HbF—a protein in blood cells—prevents the ability of sickle
hemoglobin to make red cells stiff or curved (sickle shaped) to avert symptoms
of the disease. Hemoglobin is responsible for delivering oxygen to the
tissues.
People who suffer the effects of sickle cell
disease can face debilitating strokes and pain in their extremities because
sickle red cells tend to block very small capillaries such as those in the
hands and feet.
“Normally, fetal hemoglobin levels are high in
the womb,” Pace said. “After birth, the level decreases and then normal
Hemoglobin A, or adult hemoglobin, is produced. But some people only make
fetal hemoglobin, and they’re fine—no symptoms. Our research effort to
increase fetal hemoglobin in sickle cell disease takes advantage of this fact.
We’re interested in studying two aspects of fetal hemoglobin.”
First, Pace’s lab will do an incredibly
detailed search for drugs that increase levels of HbF. Hydroxyurea, an
anti-cancer drug already on the market increases HbF but can present
side-effects that include nausea, vomiting and unknown risk for cancer
long-term. Pace is searching for other existing drugs that increase HbF
without such negative side effects. Her lab is collaborating with Dr. Kenneth
Peterson at the University of Kansas, who will test more than 100,000 drugs to
learn which ones increase HbF.
The other prong of the research, funded by NIH,
teams Pace with Dr. Michael Story, associate professor at UT Southwestern
Medical Center. Pace and Story are studying the HbF gene itself.
“They will test all of the genes in the human
genome at one time using microarray techniques—up to 42,000 genes on a
chip—and we will perform the molecular studies at our research center. We’re
interested in identifying approaches to control expression of the HbF gene,”
said Pace.
Other research in Pace’s lab is focused on a
genetic cure for sickle cell disease. Pace plans to take small pieces of DNA
and use these custom-tailored “slices of life,” so to speak, to correct the
sickle cell genes. Genes, are made up of “A, T, G and C” base pairs – or
building blocks, that control almost everything in our bodies. A single
mutation – where a genetic “A” has been switched to a “T” – causes the sickle
cell mutation. Pace hopes to essentially patch the error with a new piece of
DNA.
Pace, who was interviewed for the November
issue of Ebony magazine, said her interest in treating this disease
goes all the way back to her childhood. Children in a family close to hers
suffered from the disease, and Pace had to endure the pain of losing a
childhood friend to the condition. Given a variety of disciplines to enter
into after medical school, she reached back into her past for the inspiration
to uncover future treatments and cures for sickle cell disease.
“There are other treatments out there, even a
cure,” Pace said. “More than 250 children have been cured by bone marrow
transplants, but less than 10 percent of children have suitable donors. We’re
looking for universal cures. Researchers in this field feel confident that
within the next decade we’ll have a universal cure for sickle cell disease
that doesn’t require a donor.”
Pace, a frequently invited speaker, recently
spoke at the 16th annual Hemoglobin Switching Conference in Monterrey, Calif.
Experts were invited from around the world to present the latest advances in
the hemoglobin field
http://www.utdallas.edu/news/2008/10/14-003.php
September 2008
PBS airs Story :
Chasing the Crescent Moon
Chasing the Crescent Moon
explores the challenges posed by sickle cell through the story of one
physician and the lives he has touched. Dr. Kwaku Ohene-Frempong grew from a
child of Ghanaian cocoa farmers to become a Yale scholar, an Olympic athlete,
and one of the most important international warriors against sickle cell. He
also bore a son who suffers from the disease. In his greatest accomplishment,
Dr. Frempong established the only city-wide newborn screening for sickle cell
in all of West Africa, where 1 in 50 babies suffers from the illness.
The documentary relates Dr. Frempong's remarkable journey as well as the
dramatic stories of his coworkers, staff, patients and their families. Set in
Ghana and Philadelphia, the documentary travels from the high tech
Comprehensive Sickle Cell Clinic that Dr. Frempong heads at the Children's
Hospital of Philadelphia to his overcrowded Ghanaian clinic. The stories
educate, advocate and entrance, conveying the unusual medical and social
burdens faced by those fighting sickle cell. You can hear the broadcast
after a free registration at
http://www.prx.org/pieces/2779
Sickle Cell Disease Association of America President
and COO Willarda V. Edwards, M.D., MBA Selected as President-Elect of the
National Medical Association
The National Medical Association (NMA) recently
elected Willarda V. Edwards, M.D., MBA of Baltimore, Maryland as
president-elect at its annual meeting in Atlanta, Georgia. Dr. Edwards as
president-elect will spend the next year preparing to assume the
responsibilities of president of the NMA in July of 2009. She has served for
over 17 years on the Board of Trustees of the NMA in various capacities. Dr.
Edwards was chair of the board for two consecutive terms and in 2004 was
elected to a two year term as the treasurer. "Someone of Dr. Edwards' caliber
is an excellent choice as president. As president, Dr. Edwards, will be a
great advocate for the members and their patients," said Nelson L. Adams,
M.D., immediate past president of the National Medical Association.
Dr. Edwards has more than 20 years experience in
the delivery of medical care in both the private and public sectors, and has
acquired a wealth of leadership experience in medical education, organized
medicine, legislation and management. She is currently the president and chief
operating officer of the Sickle Cell Disease Association of America, Inc. and
a partner of Drs. Edwards and Stephens, Ltd. in Baltimore, where she practices
internal medicine. As a health advocate, Dr. Edwards enjoys a variety of
activities including skiing, biking, scuba diving and golf. She co-authored a
book addressing health disparities, A Black Women's Guide to Black Men's
Health, which received the Congressional Black Caucus Leadership in Journalism
Award in 2007.
American Society of Hematology Launches
New Campaign to Educate Consumers on Vital Connection Between Blood and Personal
Health
http://www.bloodthevitalconnection.org/
Program developed in response to results of national
survey indicating most Americans have low awareness of common blood conditions
WASHINGTON (September 16, 2008): In conjunction with its
50th anniversary, the American Society of Hematology (ASH), the world’s largest
professional society of blood specialists, today launched a new public education
campaign, Blood: The Vital Connection, with the goal
of helping health-care consumers understand the important role of blood in
overall health. As part of this effort, ASH has developed the Blood:
The Vital Connection Web site, a credible online resource
addressing disorders of the blood, including bleeding and clotting disorders,
anemia, and cancer, as well as how specific populations of people, such as
women, are affected by these conditions.
“Your blood has many different functions that are crucial to being healthy,
including carrying oxygen and nutrients throughout your body, warding off
infection, and protecting against excessive bleeding or clotting. Blood is the
window to the body -- from one vial of blood your doctor will know if you are
pregnant or if you have anemia or any other number of blood diseases,” said Dr.
Kenneth Kaushansky, ASH President. “We want people to make the connection
between their blood and total wellness.”
Blood: The Vital Connection provides
hematologist-approved information about common blood conditions, risk factors,
preventive measures, and treatment options. The informative Web site includes
helpful tips that answer questions such as:
- What is anemia and am I at risk? Anemia is one of the
most common blood disorders that affects more than 3 million Americans
according to the National Heart, Lung, and Blood Institute (NHLBI).
Blood: The Vital Connection provides information on sickle
cell anemia, an inherited disease that disproportionately affects African
Americans (one in 12 carry the sickle cell gene), and on anemia in the older
population (almost 10 percent is currently anemic), amongst many other
disorders.
http://www.bloodthevitalconnection.org/ASH-Launches-New-Campaign.aspx
The World Health Organization
(WHO), said that Nigeria accounts for 75% of infant sickle-cell cases and
almost 80% of infant deaths in Africa.
The figures released by the WHO state
that over 2,000 infants are born with sickle-cell in Africa and Nigeria
accounts for 1500 of them. -
Mr. Sadiq Wali, president of the Nigerian
Sickle-cell Foundation told the Humanitarian Integrated Regional Information
Network ( IRIN) that the sickle-cell genetic disorder kills over one
thousand children each year.
According WHO of the 2000 children born with the disease 60% will die as
infants. An expert says sickle-cell disorder is an incurable disease which
is widespread on the continent and African descendants worldwide.
Sufferers have no visible symptoms but periodically experience severe pain
and are also highly prone to anemia because the blood cells break down after
only 10-20 days, rather than the usual four months.
Sickle-cell anemia is heredity and can be passed from parents to the newly
born child. This genetic disorder alone accounts for 8 percent of infant
mortality in Nigeria which calls for urgent attention, Wali said.
http://www.africanews.com/site/list_messages/20225
Sickle Cell Movie - Sister's Battle With Sickle Cell Anemia
Inspired Filmmaker Charles Officer's Nurse.Fighter.Boy
Suzanne Ellis, video by Brian McKechnie, CityNews.ca
Nurse.Fighter.Boy, the feature film debut from Toronto director Charles
Officer, was inspired by his sister Hannah's battle with sickle cell anemia.
"She's a bit older than me so growing up there would be these things I'd see
from her, in her behaviour, but I didn't know she was sick," he reveals in an
interview with CityNews.ca during the Toronto International
Film Festival, where the film premiered. "She'd sleep under the table on the
floor, because it's good to sleep on a hard floor when you have this disease
because (of) certain things that happen in your body and your senses and the
pain. She'd get nosebleeds at the most random times and (for me) it would be,
like, 'What's happening?'"
Set in Toronto, the film examines the relationship between three
characters, Jude (Karen LeBlanc), a nurse with sickle cell anemia, her
12-year-old son Ciel (Daniel J. Gordon), and fighter Silence (Clark Johnson).
When Silence cuts his head in a fight, Jude treats him in hospital, the start
of an intimate bond between them.
http://www.citynews.ca/news/features_26845.aspx
New RFP for Sickle Cell Pain Research
Roadmap Transformative R01 Program (R01) (RFA-RM-08-029)
NIH Roadmap Initiatives Application Receipt Date(s): January 29, 2009
http://grants.nih.gov/grants/guide/rfa-files/RFA-RM-08-029.html
Transitions from Acute to Chronic Pain
More than 30 million Americans suffer from unrelieved chronic pain. Management strategies often fail, in part because an individual's
susceptibility to chronic pain is highly variable, the identification of those destined to transition from acute to chronic pain is difficult,
and, once pain has become chronic, changes may have occurred that cannot be easily reversed. The lack of well defined phenotypes that reflect the
cellular, molecular, genetic, psychological, cognitive, and behavioral changes that occur as individuals transition to chronic pain has been a
major barrier to development of personalized approaches to pain intervention. For these reasons, T-R01 proposals are sought that will
transform how we view the pain state of individuals and that will revolutionize the current empirically-based analgesic treatment
approaches to ones based upon objective and predictive measures of an individual's pain phenotype. It is anticipated that responsive studies
will involve formation of innovative partnerships including interdisciplinary and multidisciplinary teams to adequately address the
topic and experimental aims.
NIH - NHLBI announces Sickle Cell Disease Workshop: Clinical Priorities and Clinical Trials
October 22-24, 2008
In March, 2008, NHLBI announced a recommitment to research in sickle cell
disease. With advice from stakeholders in the lay and professional communities,
the NHLBI Advisory Council reviewed the current research portfolio and
scientific opportunities, and recommended an aggressive program to bring new
technologies and approaches to improve the lives of persons with sickle cell
disease. NHLBI is committed to expanding the scope of inquiry in this disease,
to include investigators in relevant disciplines that have not previously been
involved in sickle cell disease research. This expansion in scientific reach
will need to be matched by a parallel effort to extend clinical research
opportunities to a much wider spectrum of subjects and investigators than
previously.
With limited resources, it will be vital to set priorities for the next
generation of clinical trials. Workshop attendees will address two interrelated
questions:
- What are the most important phase II and phase III clinical studies that
need to be conducted in areas that have been identified as high priorities for
sickle cell disease?
- What is the best organization structure for these clinical trials that
will ensure the maximum participation by subjects and investigators?
The clinical research priorities discussions will be initiated by eight
sub-committees, each of which will be dedicated to a high-priority area of
research, as identified by the NHLBI Advisory Council. These Sub-committees will
be composed of investigators from outside and inside the sickle cell community.
Recommendations developed by the Sub-committees during meetings prior to the
Workshop will be presented.
The clinical trials discussion will draw on the expertise of senior
investigators in oncology, HIV disease and asthma. These senior investigators
will present their experience with regard to recruitment of clinical sites,
prioritization of clinical protocols, and their track records for study
completion and publication.
Breakout sessions and question-and-answer periods will allow attendees to
present their views.
Attendance will be limited to 250 individuals.
Workshop Chair
Kwaku Ohene-Frempong, MD, Professor of Pediatrics, University of Pennsylvania
School of Medicine
Confirmed Speakers
- Robert Adams, MD, Professor of Neuroscience, Director, Stroke Center,
Medical University of South Carolina
- Mark Batshaw, MD, Professor and Chairman, Pediatrics, Director, Children's
Research Institute, Children's Hospital National Medical Center, George
Washington University School of Medicine and Health Sciences
- Andrea Denicoff, RN, MS, CANP, Division of Cancer Treatment and Diagnosis,
NCI, NIH
- David Dilts, PhD, MBA, Professor of Operations Research, Owen Graduate
School of Management, Co-Director, Center for Management Research in
Healthcare, Vanderbilt University
- George Dover, MD, Professor and Chair, Department of Pediatrics, Johns
Hopkins Medical Center
- Willarda Edwards, MD, MBA, President, Sickle Cell Disease Association of
America
- Mark Gladwin, MD, Professor of Medicine, Chief, Division of Pulmonary,
Allergy, and Critical Care Medicine, University of Pittsburgh
- Johnson Haynes, MD, Professor of Medicine, Division of Pulmonary and
Critical Care Medicine, University of Southern Alabama Medical Center
- Elliot Israel, MD, Director, Asthma Research Center, Brigham and Women's
Hospital, Associate Professor of Medicine, Harvard Medical School
- Michael Lauer, MD, Director, Division of Prevention and Population
Sciences, NHLBI, NIH
- Donna Marinucci, Director of Operations, Eastern Cooperative Oncology
Group, Vice President of Operations, Coalition of Cancer Cooperative Groups
- Scott Miller, MD, Professor of Clinical Pediatrics, SUNY-Downstate Medical
Center
- James Neaton, PhD, Professor of Biostatistics, University of Minnesota,
Principal Investigator, International Network for Strategic Initiatives in
Global HIV Trials (INSIGHT).(NIAID)
- Alan Schechter, MD, Chief, Molecular Biology and Genetics Section, NIDDK,
NIH
- Jon Scheinmann, MD, Professor of Pediatrics, Chief, Pediatric Nephrology,
University of Kansas Medical Center
- Wally Smith, MD, Professor of Medicine, Chair, Division of Quality Health
Care, Virginia Commonwealth University
- Mark Walters, MD, Director, Blood and Bone Marrow Transplantation Program,
Children's Hospital Oakland Research Institute
- Russell Ware, MD, PhD, Chair, Department of Hematology, St. Jude
Children's Research Hospital
- Roy L. Silverstein, MD, Professor of Molecular Medicine, Chair, Department
of Cell Biology, The Cleveland Clinic Foundation
Organizing Committee
- Susan Shurin, MD, Deputy Director, NHLBI, Acting Division Director,
Division of Blood Diseases and Resources.
- Harvey Luksenburg, MD, Medical Officer, Division of Blood Diseases and
Resources, NHLBI
New
RFP- Additional Centers for the Sickle Cell Disease Clinical Research
Network funded under NIH grant number U10HL083721
RELEASE
DATE: September 2, 2008
Deadline to apply November 3, 2008
The Sickle Cell Disease Clinical
Research Network (SCDCRN) is seeking to expand the number of research centers
for participation in multi-center clinical studies over the remainder of its
funding cycle (through March 31, 2011). The SCDCRN was established through a
cooperative agreement (U-10) National Heart, Lung and Blood Institute (NHLBI)
Request for Applications (RFA HL-05-006) and currently consists of eight
clinical research centers, two patient outcomes cores, and a Data Coordinating
Center (DCC), New England Research Institutes, Inc (NERI). Support for the
SCDCRN included funds for the inclusion of additional sites as needed to
complete clinical studies. Up to 12 additional clinical research centers will
be added.
Initiation of at least two major
studies is anticipated within the next 6 months which will require additional
sites to achieve subject accrual goals:
PROACTIVE is a randomized controlled
trial to determine if a single simple transfusion can reduce the incidence of
acute chest syndrome in patients with sickle cell disease (all genotypes >2
years of age) hospitalized for pain crises. Hospitalized patients will be
screened daily with a serum phospholipase A2 level to be established in the
local laboratory to identify those at high risk of impending acute chest
syndrome. High risk patients will be randomized to a simple transfusion or
standard care; presence or absence of a new infiltrate on a chest radiograph
done at 72 hours after randomization and/or as clinically indicated will serve
as study endpoint. It is anticipated that at least 870 pain episodes will need
to be screened to identify 120 subjects needed for randomization.
The Losartan study will consist of
two parallel placebo-controlled trials to determine if Losartan can retard the
progression of renal disease in patients with sickle cell disease (all
genotypes, age ≥ 12 years of age). Patients with microalbuminuria (urine
protein 30 – 299 mg/g creatinine) will be enrolled in one trial, while patients
with macroalbuminuria (urine protein > 300 mg/g creatinine) will be enrolled in
the other. Each patient will be followed for up to four years with quarterly
measurements of renal function and protein excretion. It is anticipated that
4700 subjects > age 12 years of age will be need to be screened for either
micro- or macroalbuminuria to identify the 450 subjects needed for enrollment
and randomization.
For the full
RFP as a PDF click here
Yale Researchers
Find New Way to Fix Faulty Genes Sickle Cell Anemia, Other Inherited
Diseases Targeted
|
|
(HealthNewsDigest.com)
- New Haven, Conn. - Yale University researchers have found a new method to
create lasting genetic changes within human cells, opening up the possibility of
new treatments for inherited diseases like sickle cell anemia.
The researchers corrected a specific defect within a human gene that causes the
blood disorder thalassemia, researchers reported in a study to be published
online in the journal Proceedings of the National Academy of Sciences USA. The
disease affects production of hemoglobin, the molecule in red blood cells that
carries oxygen to the body.
Scientists in the laboratory of Peter Glazer, professor and chair of the
Department of Therapeutic Radiology and professor of genetics at the Yale School
of Medicine were also able to slip a sort of genetic repair kit into blood stem
cells. In theory, repairs to these hematopoietic progenitor cells would enable
the body to produce healthy red blood cells indefinitely
http://www.healthnewsdigest.com/news/Research_270/Yale_Researchers_Find_New_Way_to_Fix_Faulty_Genes.shtml
CarDan Sickle Cell Centre,
Owerri, Imo State Nigeria is officially opened
CarDan Sickle Cell Centre, Owerri, Imo
State was officially opened on the 30th of August by the Imo State
Governor – His Excellency Chief Ikedi Ohakim ably represented by the Imo State
Commissioner for Health Dr Vin Udokwu.
Special guests at the Opening included
the WHO Sickle cell Expert for Nigeria – Prof. Olu Akinyanju of the Sickle
Cell Foundation, The Director General, National Agency for Food, Drug
Administration and Control (NAFDAC), Prof. Dora Akunyili who was honoured as
th e centers First Patron.
In her welcome address Mrs Carol Nwosu
the Founder and Chief Executive Officer of the Center, (she also runs a
charity in London called Sickle Cell & Young Stroke Survivors) said she felt
highly encouraged with the turn out of special guests and families to the
Opening. She told guests that Sickle cell is not a taboo or a death sentence
and families should come together in Nigeria to form one voice so that the
governments and international agencies will help Children, young people and
their families affected by Sickle cell disease.
She said that the center was set up from
her own experience of looking after her son who has sickle cell disease and
has suffered several strokes and moya moya disease. She said his care is still
challenging but when she thinks of the children in Nigeria who have no medical
care, she believes that God inspired her and her husband – Ranti Nwosu to set
up the center.
She urged the public, Government (Local
and Federal), philanthropists, international bodies to come to the aid of the
center, to provide drugs, medical equipment and supplies, a generator,
laboratory equipment, transport, office equipment, physiotherapy equipment,
wheelchairs, toys and food.
In his address, Professor Olu Akinyanju,
says that no fewer than 40 million Nigerians “are healthy carriers of sickle
cell traits”.
While calling for the establishment of sickle cell centres across the 36
states and Abuja, Professor Akinyanju also opined that, the number of those
suffering from the health disorder would be reduced if a more organized and
sustained awareness campaign was mounted in all communities.
In her own message at the ceremony, the Director General, National Agency for
Food, Drug Administration and Control (NAFDAC), Prof. Dora Akunyili, described
the health disorder as “the most commonly inherited ailment among human
beings”.
Professor Akunyili, whose message was delivered by a Deputy Director in the
Agency, Dr. Lillian Duru, also called for attention to be given to the menace
of sickle cell disorder. “Results of 10,000 blood samples taken recently at
the University of Ilorin Teaching Hospital were very disturbing. This is one
major reason why the government of our dear country must take another serious
look at the health disorder”, Aku nyili pleaded.
The Commissioner for Health – Dr. Vin
Udokwu, decried the level of ignorance in the society concerning the Sickle
cell disorder, he said the best advice to the people is to go for Genotype
screening before marriage.
Contact
Mrs. Carol Nwosu -Founder/Chief
Executive Officer Email:
Carolnwosu@scyss.org Tel:
+44 207 635 98 10 Mobile: +44 7949 942 106
August 2008
Dr. Whitten, pioneer of sickle cell screening and champion
of African-American medical students, dies August 14, 2008
Dr. Charles Whitten, M.D., associate dean emeritus of the Wayne State University
School of Medicine, died Aug. 13. He was 86.
“Dr. Whitten was a pioneer in the field of medical education,” said Robert
Frank, M.D., executive vice dean for the School of Medicine. “He founded the
post baccalaureate program at Wayne State University School of Medicine, which
was a national model for the inclusion of under-represented minority students in
schools of medicine. Dr. Whitten revolutionized the curriculum at our School of
Medicine, and was a personal mentor to many of our current medical educators.”
The post baccalaureate program led to Wayne State University leading the
nation’s 125 medical schools (exclusive of Howard and Meharry) in the total
number of African-American graduates from 1981 to 1997. One-third of them had
entered through his program.
In addition to developing the post baccalaureate program in 1969, Dr. Whitten
formed the Sickle Cell Detection and Information Center, the most comprehensive
community program in the country, and facilitated the creation of the National
Association for Sickle Cell Disease.
As chief of Pediatrics at Detroit Receiving Hospital, he was the first
African-American physician to head a department in a Detroit hospital.
Dr. Whitten, who served more than 40 years as a member of the School of Medicine
faculty, served 16 years as associate dean for Curriculum before entering
semi-retirement in 1993 as professor and dean emeritus.
“Dr. Whitten was best known for his pioneering work in sickle cell anemia
screening and development of novel educational tools for teaching children and
families with sickle cell anemia,” said Yaddanapudi Ravindranath, M.B.B.S.,
professor of Pediatrics and the Georgie Ginopolis Chair for Pediatric Cancer and
Hematology at the School of Medicine, and co-director of the Division of
Hematology/Oncology for Children's Hospital of Michigan. “His forceful advocacy
paved the way for the routine newborn screening for sickle cell anemia in
Michigan and later in the United States.”
http://prognosis.med.wayne.edu/article/dr-whitten-pioneer-of-sickle-cell-screening-and-champion-of-africanamerican-medical-students-dies
Bio at
http://www.med.umich.edu/haahc/Oralbios/whitten.htm
Dr. Kraus led sickle cell fight in Memphis TN, Dies at age
92
Dr. Alfred Kraus, in partnership with his wife, Dr. Lorraine M. Kraus, became
internationally known in the field of sickle cell research and the care of
sickle cell patients. "The dinner table conversation was never typical," Dr.
Alfred Kraus Jr. of Memphis said of his parents. "I knew more about sickle cell
as a child than most people do now."Dr. Alfred Kraus died Tuesday at his home.
He was 92.
Born in Vienna, Austria, in 1916, Dr. Kraus immigrated in 1938 to Chicago. He
trained in internal medicine and hematology at Michael-Reese Hospital at the
University of Chicago where he met his wife of 64 years.In 1950, the family
moved to Memphis where Dr. Kraus began his study of sickle cell disease with Dr.
L.W. Diggs at the University of Tennessee. His wife taught there as well.
"I think it was difficult at the university to have two people from the same
family to be employed at that level," his son recalled. "But they worked
together, they worked together throughout their marriage, on everything."
The Krauses became a medical family, with two parents in sickle cell
research, one son in nephrology and the other in internal medicine.
http://www.commercialappeal.com/news/2008/jul/27/dr-kraus-led-sickle-cell-fight/
Children's national co-leads nationwide study of landmark
sickle cell treatment
WASHINGTON, DC—Children's National Medical Center immunologist and blood and
marrow transplant physician Naynesh Kamani, MD, will serve as the study co-chair
for a new national clinical trial of unrelated donor marrow and umbilical cord
blood transplants for severe sickle cell disease. Children's National will join
more than 20 other medical institutions in the first-ever Phase II clinical
trial of this treatment. If successful, the Sickle Cell Unrelated Transplant (SCURT)
trial has the potential to extend a promising and possibly curative treatment
option to more severely affected patients. Sickle cell disease affects
approximately 70,000 people in the United States.
For many years, doctors have used blood or marrow transplants to treat severe
cases of sickle cell disease. However these treatments have been available only
to patients with a matched family member to donate blood or marrow stem cells.
Only 14 percent of severe sickle cell cases have a matched donor within their
family. Successful transplants using unrelated donors could create a viable
treatment option for more sickle cell patients.
"Blood and marrow transplantation from unrelated donors has been routinely
utilized to treat treatment-refractory leukemia and lymphoma for almost two
decades," said Dr. Kamani, co-principal investigator of the study. "Preliminary
results from the few unrelated donor transplants that have been performed for
other non-malignant conditions show great promise for those who suffer a
severely diminished quality of life due to sickle cell disease. Participants in
this large-scale study will help us understand how to better treat, and possibly
even cure, sickle cell disease for more people."
Starting in late August, the clinical trial will enroll 45 patients ages 3 to 16
with severe symptoms of sickle cell disease, including stroke, recurring acute
chest syndrome, or frequent pain crises. For all marrow and cord blood
transplants, patients must undergo intense chemotherapy to prevent their immune
systems from rejecting donor cells. This study will use a reduced-intensity
chemotherapy to minimize side effects and increase the likelihood that the donor
cells will be accepted by the body. After the transplant, participants will be
followed for two years to gauge the effectiveness of the transplant at
minimizing the ravages of sickle cell disease.
http://www.eurekalert.org/pub_releases/2008-08/cnmc-cnc081508.php
Children's Healthcare of Atlanta Breaks Ground on New
Facility at Children's at Hughes Spalding
- Children's Healthcare of Atlanta, a not- for-profit organization and one of
the country's leading pediatric health care systems, today broke ground on the
construction of a new facility at Children's at Hughes Spalding. More than 100
attendees witnessed the ceremony, which represents a major milestone in efforts
to reshape and revitalize the downtown facility. Children's Healthcare of
Atlanta will continue to rely on support from the community in order to raise
the nearly $10 million more needed to renovate and operate the facility. "We are
enthusiastic that this day has come," said Donna Hyland, president and CEO of
Children's Healthcare of Atlanta. "The new building at Hughes Spalding will have
a pediatric focus, which is important since we know that children fare better
when treated in a child-centered setting. With our increased attention on
clinical excellence, research, teaching and wellness as part of Children's
10-year vision, we couldn't be happier with the strides that have been made
towards providing the highest quality care for the Children's at Hughes Spalding
community, as well as all of Georgia's children." Children's assumed the
management of Grady-owned Hughes Spalding in 2006 and has since worked
extensively with members of the community, physicians, employees and others to
create a plan to ensure its viability for future generations.
The new, four-story facility, projected to open in 2010, is part of that
plan. Replacing the hospital's 1952 building, which was originally constructed
as an adult hospital, the new building will feature vital child- and
family-friendly amenities not currently available. "Children's and Grady share a
mission to make the highest quality care accessible to all children," said Doug
Hertz, Chairman of Children's Healthcare of Atlanta Board of Trustees. "The
enhancements that have been made already at Children's at Hughes Spalding and
the ones yet to come will further strengthen our ability to do just that. It's
an exciting time." The hospital will be constructed on land now used for a
parking lot and will augment a 1983 annex, which has also undergone renovations.
The structure will house 24 child-friendly inpatient beds with the ability to
expand, an enhanced and expanded Emergency department and vital specialty
clinics: sickle cell, asthma and child protection. "Many hands have come
together to ensure Hughes Spalding remains an important resource," said Julia
Jones, vice president, operations of Children's at Hughes Spalding.
"Representatives from Children's and Grady, as well as Emory University School
of Medicine and Morehouse School of Medicine - the physicians who see the
children every day - provided invaluable feedback on how to revitalize the
facility. It truly has been a community effort." A Children's Healthcare of
Atlanta
http://www.choa.org
http://www.choa.org/default.aspx?id=2647
American Idol Ruben Studdard Shares Helps Educate about
Sickle Cell Disease
JACKSONVILLE, FL -- He burst onto the national stage as the winner of
American Idol. Now, Ruben Studdard is educating people about sickle cell anemia.
Ruben Studdard and Tracy Ross, who has sickle cell disease, were interviewed
during Good Morning Jacksonville Saturday on August 9, 2008. Watch the video
clip. - Ruben is ambassador for "Be Sickle Smart." How he got involved with the
event.
http://www.firstcoastnews.com/life/entertainment/news-article.aspx?storyid=115960&catid=19
UCF death: The aftermath College coaches, athletes must
treat the dangers of sickle-cell trait seriously
http://www.orlandosentinel.com/sports/orl-sickle0308aug03,0,3066317.story
Tyrone Goodson knew something was wrong by the third lap. It was
testing day for the Auburn football team and players were supposed to prove they
stayed in shape during the summer by doing several drills, including a
mile-and-a-half run in 9 minutes and 30 seconds.
"It was a really hot and humid day in August, but that usually wasn't a big deal
for me," said Goodson, a Tigers receiver from 1993-98. "Then all of a sudden I
just felt my body getting really weak during our mile-and-a-half run. I usually
beat most of the guys on the team, but I barely made it in time. I walked during
part of the test and collapsed at the end. I felt awful."
Goodson has the sickle-cell trait, but it never occurred to him the condition
could have threatened his life during strenuous workouts.
National Stomp
Out Sickle Cell (SOS) Walk - September 20th for Sickle Cell Month
http://www.soswalk.org/index.html
History of Stomp Out Sickle Cell Walk
For many years, the Sickle Cell community voiced interest in having a walk, but
no one group was able to coordinate it by themselves. In 2007, several
community-based groups and medical institutions came together to sponsor and
promote the First Annual Stomp Out Sickle Cell Walk. Through the hard, unified
work of several organizations, the First Annual Stomp Out Sickle Cell Walk was
held on September 18, 2007. The midpoint of the walk was the Washington Hilton,
where the Sickle Cell disease Association of America was holding their annual
convention. About 300 walkers participated in this collaborative effort. This
year, this same dedicated group is hoping to double the number of walkers and
expand the awareness and sponsorship of the Walk.
New Workshop added to SCDAA 36th Annual Convention
Best
Self-Management Practices – A Client Panel Perspective". The workshop will be
held on Tuesday, September 23, 2:30P-7P prior to the SCDAA 36th Annual
Convention. The specific location at the Hilton New Orleans Riverside Two
Poydras Street, New Orleans, LA will be announced. Client panels will discuss
successful self-management practices for a variety of challenges faced by
clients with SCA. More more information, or if you would be interested in
participating as a panel member, contact Efa Ahmed-Williams
efaahmedwilliams@gmail.com or
Paula Tanabe ptanabe2@nmff.org ,
Co-Chairs .
Registration is not required and there is no cost for attending the workshop.
September 24 - 27, 2008 New Orleans, LA
SCDAA 36th Annual Convention Hilton New
Orleans Riverside Two Poydras Street ♦ New Orleans,
LA
www.sicklecelldisease.org
Sickle Cell Expert Dampier Named Medical Director of Emory
Office for Clinical Research
Emory University School of Medicine has appointed Carlton Dampier, MD, a
national leader in the study and treatment of sickle cell disease, as medical
director of its Office for Clinical Research. Dampier also will be a professor
in the Department of Pediatrics and assistant dean for clinical research in the
School of Medicine.
As a member of the Atlanta Clinical and Translational Science Institute, led by
Emory University along with partners Morehouse School of Medicine, Georgia
Institute of Technology and CHOA, Dampier will direct the Ethics, Regulatory
Knowledge and Support Program.
"We are very fortunate to have Carlton Dampier as medical director of our
Clinical Trials Office" says Thomas J. Lawley, MD, dean of EEmory University
School of Medicine. "He has played a major leadership role in the development of
sickle cell disease treatment and clinical research programs, and he brings
experience to our expanding clinical trials and clinical trials partnerships"
http://www.webwire.com/ViewPressRel.asp?aId=71330
New Organization Formed -Global Sickle Cell Alliance, Inc. (GLOSCA)
GLOSCA is a global non-profit organization providing a forum for all persons, agencies, organizations, health groups, and businesses to unite with the common
cause to stop Sickle Cell injustice and join the efforts to find a cure.
GLOSCA serves the Sickle Cell community with technical tools and unique programs that are designed to meet the specific needs of the organizations
and Individuals. Visit our web site, http://www.glosca.org to learn more about our organization and the services we provide our members and the Sickle Cell Community. Membership is open to individuals, private NPO, health departments, corporations and others who are interested in working towards the stopping sickle cell injustice and finding a cure. Membership applications can be downloaded or emailed at our web site. GLOSCA is a Non-Profit Organization pursuant to IRS 501 (c) (3).
Address:
104 Miriam Road, New Britian, CT, 06053 USA
Telephone:
860-212-5928
July 2008
Gaining Ground On Sickle Cell Disease. -
Children's Hospital Boston (2008, July 16). ScienceDaily.
Retrieved July 17, 2008, from http://www.sciencedaily.com/releases/2008/07/080715132723.htm
Although sickle cell disease is a single-gene disorder, its symptoms are
highly variable. In a study published online July 14 by the Proceedings of the
National Academy of Sciences, scientists at Children's Hospital Boston and the
Dana Farber Cancer Institute (DFCI), in collaboration with the Broad Institute
of MIT and Harvard, report five gene variants that could potentially be helpful
in predicting sickle cell disease severity, perhaps even leading to better
treatment approaches in the future. The gene variants influence blood
levels of fetal hemoglobin (HbF), which are known to affect symptom severity in
sickle cell disease--with some patients experiencing frequent, severe pain
crises and organ damage, while others are scarcely aware of their disease.
"Our study is a first step towards a better understanding of fetal
hemoglobin regulation in patients with sickle cell disease," says Guillaume
Lettre, PhD, of the Broad Institute and Children's Hospital Boston, and co-first
author on the paper. "But further validation experiments are needed before
these findings can become useful in the clinic." "Eventually,
understanding the factors giving rise to heterogeneity in HbF levels might allow
us to take severely affected patients and make them more like those with more
benign symptoms," adds Vijay Sankaran, co-first author on the paper with
Lettre and an MD-PhD student in the laboratory of Stuart Orkin, MD. (Orkin is
chair of pediatric oncology at DFCI and a Howard Hughes Medical Institute
investigator at Children's.)
In sickle cell disease, a single genetic mutation results in the production
of an abnormal type of hemoglobin, the main component of red blood cells. The
abnormal hemoglobin molecules tend to form long chains, causing red blood cells
to become stiff and sickle-shaped. The distorted cells have difficulty passing
through blood vessels and can block the smaller vessels, resulting in severe
pain and eventual organ damage as tissues are robbed of their blood supply. The
sickle-shaped red blood cells also have a very short lifespan, causing patients
to be chronically anemic.
Previous research had established that retaining high levels of another type
of hemoglobin--HbF, found at high levels in the fetus--can ameliorate sickle
cell disease symptoms. At birth, HbF comprises between 50 to 95 percent of a
child's hemoglobin, gradually declining as the switch is made to adult
hemoglobin production -- consistent with clinicians' observations that newborns
diagnosed with sickle cell disease usually do not become symptomatic until they
are about a year old. Population studies in Saudi Arabia and parts of India had
identified groups of sickle cell patients with very high levels of HbF and
relatively benign forms of the disease, and additional epidemiologic studies led
by Orah Platt, MD, chief of laboratory medicine at Children's, showed that HbF
is an ameliorating factor. "The more you have, the better off you
are," says Sankaran.
Studying 1600 patients with sickle cell disease, the researchers found that
previously identified DNA sequence variants in three chromosome locations (small
regions on chromosome 2, 6, and 11) were associated with high or low HbF levels.
When they added these five variants to a model previously designed by Platt to
predict disease severity, which also factors in age, sex, degree of anemia and
HbF levels, the model's predictive ability was enhanced.
The findings need to be validated in large, prospective clinical studies, but
the researchers are hopeful about the possible future clinical implications of
their work. "As we find gene variants that regulate HbF levels or predict
severity, we might eventually want to genotype patients for these variants, to
get more predictive information on their disease," Sankaran says.
Finally, once this study is validated, understanding how these variants
actually affect HbF levels might someday lead to new drugs that do the same
thing. "If we can gain better insight into what these variants are doing,
we may eventually have better, more targeted therapies for sickle cell
disease," adds Sankaran.
Lettre and Sankaran shared first authorship of the paper. Orkin and Joel
Hirschhorn, MD, PhD, of Children's and the Broad Institute, were senior
authors.This study was funded by grants from the National Heart, Lung and Blood
Institute, the National Institute of Diabetes and Digestive and Kidney Diseases,
and the Howard Hughes Medical Institute.
Medicinal use of video games growing, may help pain
This fall, researcher Carmen Russoniello will hand sickle cell anemia
patients video game controllers and see whether playing the games helps them
control stress and reduce pain caused by their disease.
Scientists, intrigued by video games' intrinsic ability to distract and focus
the mind, have for decades looked for ways to use them to improve health and
patient outcomes. Much of the work, however, has dwelt in obscurity as
researchers struggled with small study sizes and lingering biases against what
many considered a juvenile or even anti-social pastime. Even the video game
industry has been unsure of what to make of the research, instead focusing
primarily on the enjoyment aspect of game design.
But Russoniello, who has studied the physical and mental effects of
recreation for 20 years, believes those perceptions are changing. For example,
his sickle cell anemia study will be held in a clinical center operated by the
highly selective and influential National Institutes of Health. In addition,
insurance companies and a leading philanthropic organization have begun throwing
big money behind video game research."Ten years ago, they would have
laughed me out of that place," the East Carolina University researcher
said. "But there's an acceptance of things. (Video games) aren't panaceas
but they have their place and we need to find where that place is."
The Robert Wood Johnson Foundation announced in May that it would provide
more than $2 million in grants for a dozen studies on the use of computer games
for health. The projects range from using active video games, such as the
Nintendo Wii, to encourage weight loss in children to seeing whether playing a
driving-type video game improves cognitive and visual functions in senior
citizens.This year's Games for Health conference, an annual get-together for
medical scientists to review the latest in games-related research, drew more
than 320 attendees, up from 120 when the meetings began four years ago, said
co-founder Ben Sawyer.Among those attending this year's conference were
representatives of such major health care organizations as Humana Inc., Cigna
Corp. and Kaiser Permanente, which have all launched gaming projects in the past
year.
Cigna, for instance, is distributing copies of the HopeLab-developed game
ReMission to oncologists to give to their teenage cancer patients. The sci-fi
shooter lets players blast cancer cells while learning how the disease
progresses and what they can do to improve their health and well-being."Frankly,
teens are a difficult group to reach," said Joe Mondy, assistant vice
president of IT communications. "We think a video game approach reaches
those kids where they are."
As happens in other areas of health, the research is actually trailing behind
public behavior.A recent customer survey by Seattle-based PopCap Games Inc.,
maker of such casual games as Bejeweled, found that more than 20 percent of
respondents identified themselves as having some level of physical or mental
disability, and most of those said they used games as part of their therapy.One
of those is Gail Nichols, 48, who said she has used video games to combat severe
depression since the mid-1990s.The northeast Kansas resident, who said she
suffers from post-traumatic stress disorder and other ailments, said she carries
a Nintendo DS or Gameboy with her when she travels in case she begins feeling
anxious or confused in public.
"If I get stressed out, my service dog is there with me. I'll pull (the
game) out of her pack and between her being there with me and sitting there
playing the game I won't be so nervous about people around me," Nichols
said. "I would hope the medical community will add this to their bag of
tricks."
Stem cell transplant for sickle cell
disease subject of clinical trial
By Beth Miller http://mednews.wustl.edu/news/page/normal/12009.html
July 11, 2008 -- Children with sickle cell disease often face severe pain,
organ damage, recurrent strokes and repeated, prolonged hospital stays. Although
there are medical interventions that can lessen the symptoms, there is no cure.
In an effort to change that, researchers at Washington University School of
Medicine in St. Louis are leading a nationwide, multicenter clinical trial to
determine the effectiveness of transplanting blood stem cells from unrelated
donors into children with severe sickle cell disease.
The Phase II clinical trial is led by Shalini Shenoy, M.D., associate
professor of pediatrics at Washington University School of Medicine in St. Louis
and medical director of the pediatric bone marrow transplant program at St.
Louis Children's Hospital, and co-principal investigator Naynesh Kamani, M.D.,
of Children's National Medical Center in Washington, D.C. Children with severe
sickle cell disease who qualify will receive a blood stem cell transplant from
either bone marrow or umbilical cord blood to replace their own red blood cells.
The trial seeks to enroll 45 patients ages 3-16 with symptoms of severe sickle
cell disease, such as strokes, frequent pain or repeated episodes of acute chest
syndrome, a painful obstruction of the blood vessels in the lungs.
To prepare to receive blood stem cells from a donor, patients must go through
an intense treatment called conditioning to reduce production of their own blood
cells and prevent their immune system from rejecting donor cells. For this
trial, patients will receive reduced-intensity conditioning that could help them
better tolerate the transplant with fewer toxic side effects of conditioning,
such as infertility. As part of the trial, researchers will determine if the
reduced-intensity conditioning treatment will allow the healthy donor blood stem
cells to grow successfully in the patient.
Sickle cell disease is an inherited blood disorder affecting red blood cells,
which contain hemoglobin, the substance that carries oxygen from the lungs to
all parts of the body. In patients with this disease, red blood cells contain an
abnormal type of hemoglobin that causes the normally round, flexible red blood
cells to become stiff and sickle- or crescent-shaped. The sickle cells can't
pass through tiny blood vessels, which can prevent blood from reaching some
tissues and can result in tissue and organ damage, pain and stroke. In addition,
sickle cells are short lived and lead to a shortage of red blood cells and
anemia.
Sickle cell disease affects about 70,000 people in the United States and
occurs in about 1 of every 500 African-American births and 1 of every 1,000 to
1,400 Hispanic-American births. Blood transfusions and bone marrow transplants
have been shown to be effective treatments by replacing sickle cells with
healthy red blood cells. However, blood transfusions have to be repeated
regularly and can cause iron overload. Bone marrow transplants have a 10 percent
mortality rate because of the possibility of infections, organ damage or
graft-versus-host disease as donor cells work against the patient.
A healthy sibling who has the same tissue type as the patient is the best
donor for a blood stem cell transplant, but few patients have such a suitable
donor in their family. "So using unrelated donors who are close matches is
the next best option if transplant is to be considered for this disease,"
Shenoy says. "Though, the probability of finding a good match is lower for
minorities due to fewer minority donors registered in the National Marrow Donor
Program, we think we can certainly find a good match for several of our
patients," Shenoy says.
Physicians should only consider stem cell transplantation in children with
severe cases of sickle cell disease and who have a closely matched donor,
according to Shenoy."You only take a patient to transplant if the
risk/benefit ratio is better by offering them the transplant," she says.
"Right now, blood stem cell transplant is the only potential curative
therapy for severe sickle cell disease."
In the preliminary trial, about 10 patients with sickle cell disease
nationwide had successful blood stem cell transplants. The promising results
generated interest in expanding the trial to a larger group of
patients."For a successful outcome we need the red blood cells from the
patient to be replaced by donor red cells without complications such as major
graft-versus-host disease or organ damage," Shenoy says. "We think we
have a good chance. If the donor red cells are rejected, we expect that the
patient will recover his or her own red cells and remain at baseline with the
disease."
The trial is supported by the Bone Marrow Transplant Clinical Trials Network
of the National Heart, Lung, and Blood Institute, the National Marrow Donor
Program, the Sickle Cell Disease Clinical Research Network and the Pediatric
Blood and Marrow Transplant Consortium.
For more information about participating in the trial or about becoming a
donor, contact Shenoy or Yvonne Barnes at (314) 454-6018 or visit the Bone
Marrow Transplant Clinical Trials Network Web site at https://web.emmes.com/study/bmt
Sickle Cell Drug Underused by Physicians- Review
of data on hydroxyurea shows it works, but long-term effects are unknown
Posted June 20, 2008
http://health.usnews.com/articles/health/healthday/2008/06/20/sickle-cell-drug-underused-by-physicians.html
FRIDAY, June 20 (HealthDay News) -- A drug that has shown some
effectiveness in treating sickle cell anemia is not being used often enough by
doctors who are uncertain about its proper use and possible long-term effects,
according to a new report.
Researchers at Johns Hopkins University say their extensive review of
studies on hydroxyurea clearly shows its helps people with sickle cell anemia,
an inherited disorder that affects mostly people of African and Hispanic
heritage. Their report, published in the June 17 Annals of Internal
Medicine, concluded that hydroxyurea is a viable treatment option for now,
but more quality research is needed.
About 70,000 people in the United States have sickle cell anemia, in which
sickle-shaped blood cells periodically clump inside blood vessels, blocking
circulation. This results in severe anemia, an increased risk of infections or
strokes, and extreme episodes of pain that last for days.
The U.S. Department of Health and Human Services asked Johns Hopkins
researchers to examine all previously published studies on hydroxyurea in an
effort to increase awareness about the drug's potential.
"We know that many people with sickle cell disease aren't being
offered this drug, which is the only one we have to treat this disease,"
Dr. Sophie Lanzkron, director of the Sickle Cell Center for Adults at Johns
Hopkins, said in a prepared statement.
The team analyzed 246 quality articles on the drug and concluded it clearly
works. The data suggests that once patients started taking hydroxyurea:
- Their episodes of painful sickle cell "crises" fell by 68
percent to 84 percent.
- Their hospital admissions declined by 18 percent to 32 percent.
- Their levels of fetal hemoglobin, a blood component that appears to
eases sickle cell symptoms, increased by 4 percent to 20 percent.
The review also found hydroxyurea impairs sperm development in mice and may
do the same in humans. The team, though, could not conclusively back theories
that hydroxyurea increased or decreased the risk of leukemia or other tumors,
leg ulcers and pregnancy complications from its review.
"It's clear from our literature review that hydroxyurea works, but we
need to do much more work to understand how it works and the best ways to use
it," Lanzkron says
Natural conception yields perfect match for transplant
Andrea W. Dilworth • Special to The Clarion-Ledger
• July 15, 2008 http://www.clarionledger.com/apps/pbcs.dll/article?AID=/20080715/HEALTH/807150354/1242
Tammy and Anthony Witherspoon of McComb, both carriers of the sickle cell
trait, were hesitant to bring another child into the world because of the 25
percent chance their offspring would be born with the genetic blood disease.
But when they learned son Anthony II's best chance for a cure was the
umbilical cord blood of a healthy sibling, they decided to try in vitro
fertilization, which they hoped would give them the opportunity to selectively
implant an egg that was both free of sickle cell and a match.
"I had to cure my son," said Tammy, director of the Adolescent
Offender's Program for the McComb School District.She mentioned it to Dr. Gail
Megason, professor of pediatrics and director of the Division of Pediatric
Hematology Oncology at the University of Mississippi Medical Center."Her
words to me were, 'Bring me a healthy baby, a match.' So we did," Tammy
said.
But it wasn't that simple. The in vitro fertilization, which cost the
Witherspoons $12,000, was unsuccessful. The day of the scheduled implantation,
Tammy and Anthony were told none of the 10 eggs doctors had retrieved from her
had survived. Devastated but fertile from the medication she been taking to
boost her fertility for implantation, Tammy and Anthony decided to "go
home and do it the godly way. We put our faith in God and conceived the same
day."
Nine months later, Amani (Swahili for faith in God) was born. Not only was
he free of sickle cell, but he was a perfect match for Anthony II.Cord blood
transplants are often the only option for patients with sickle cell, which
primarily strikes African Americans, Megason said.
"We can find cord blood sometimes easier. It's harder finding a match
for African-American patients because they are not on the national registry.
It's just a cultural fear."The Witherspoons arranged to have Amani's
umbilical cord blood collected by Viacord, a private cord blood bank. Months
before her due date, Viacord sent the cord collection kit to the Witherspoons,
who in turn took it with them to the hospital when Tammy was ready to deliver.
After Amani's delivery, doctors collected the cord blood, and a
representative from Viacord picked it up for processing and storage, which
takes six to eight weeks.Private banks usually charge $1,500 to $2,000 to
collect, process and store units, but because of the Witherspoons'
pre-existing need, their fees were waived.Anthony II wasn't able to undergo
the transplant right away, though. Doctors needed to extract bone marrow from
Amani to serve as a boost during the cord blood transplant, Tammy Witherspoon
said. Amani had to be at least a 1-year-old for the procedure. It was a long
wait, but well worth it.
Three years later, at 13, there are no signs of sickle cell anemia in
Anthony II's blood, Tammy said."He is the healthiest one in the house.
Every mother's dream is to have a healthy kid."
Megason does not recommend that all expectant parents make plans to bank
their newborn's cord blood for private use.The Witherspoons, however, are a
special case."For patients who have a child with sickle cell, leukemia or
other genetic diseases that can be cured by transplantation, if you already
have a child with such a disease, you would want to collect cord blood,"
Megason said.
National guidance issued on treating sickle cell in England
The standards, published by the Sickle Cell Society, http://www.sicklecellsociety.org
include guidelines for nurses in primary care as well as specialist networks
for hospitals and clinics. The guidance deals with topics such as the
management of chronic and acute conditions, blood transfusions, and screening.
Dr Allison Streetly, programme director for the NHS Sickle Cell and
Thalassaemia Screening Programme, said: 'The introduction of these much needed
national guidelines on caring for adults with the disease is greatly
welcome.'Together with the care standards for thalassaemia they lay the
foundation for a care framework where patient needs are properly understood
both close to where people live and in specialist centres,' she added.
With sickle cell being one of the most commonly inherited genetic diseases
in England, the charity said its next challenge would be to improve
understanding of sickle cell and thalassaemia among both the public and
healthcare professionals. The standards coincide with Sickle Cell
Awareness Month, which has activities running across the country throughout
July to improve awareness and management of the disease.
Dr Lorna Bennett, Chairperson, Sickle Cell Society said: ' The reality is
that provision of care for adults with sickle cell disease can vary
significantly between individual professionals as well as health care
provision organisations. These standards are the tool needed to address the
inequalities in provision and access to good quality care.' The full text PDF
guide book can be downloaded at http://www.sicklecellsociety.org/CareBook.pdf
New Center for Sickle Cell Disease Research,
treatment, care to be brought together
By Katerina Pesheva Johns Hopkins Medicine http://www.jhu.edu/~gazette/2008/07jul08/07sickle.html
Johns Hopkins
Children's Center has received a nearly $5 million grant from the National
Heart, Lung and Blood Institute to establish a basic and translational research
center for sickle cell disease that will consolidate research, treatment and
care of adult and pediatric patients under one roof and speed up the translation
of scientific discovery from bench to bedside. In addition, the center will
offer counseling and education services to patients and their families.
Sickle cell disease is an inherited blood disorder marked by a
mutation in the hemoglobin genes. The defect causes oxygen-starved, abnormal
crescent-shaped red blood cells that give the disorder its name. The
sickle-shaped cells get stuck in blood vessels, leading to excruciatingly
painful strokes and organ damage. Sickle cell anemia affects nearly 72,000
Americans, primarily African-Americans.
"This center will be a marriage of all aspects of science
and treatment, from basic science and clinical research to patient care and
public health research, all part of the quest to treat and ultimately cure
sickle cell disease," said lead investigator James F. Casella, Rainey
Professor and chief of Pediatric Hematology at Johns Hopkins.
By drawing on the expertise of researchers from diverse areas,
the center's faculty and staff expect to advance promising therapies more
rapidly. For example, a basic-science project led by Allen Everett, a pediatric
cardiologist, will use the science of proteomics, the study of proteins, to look
for biomarkers involved in silent strokes, which are a leading cause of
neurologic complications in sickle cell patients. Discoveries in this area will
ultimately lead to better understanding, earlier diagnosis, treatment and
prevention of neurovascular problems in sickle cell patients.
On the public health end of the spectrum, researchers from the
Johns Hopkins Bloomberg School of Public Health, led by Cynthia Minkovitz, will
examine how local public health services affect disease course and survival, and
then pinpoint public health measures that will help eliminate state-to- state
disparities in patient outcomes.
The translational arm of the center, led by urologist Arthur
Burnett, will help take lab discoveries to the patient's bedside. For example,
scientists will study the role of nitric oxide in sickle cell priapism,
long-lasting painful erections that are a common complication of the disease.
Researchers will then examine whether certain medications that affect nitric
oxide levels might reduce and prevent this dreaded complication, which often
requires treatment at the emergency room or hospitalization.
The center will also support a faculty scholar in sickle cell
disease and a summer program in sickle cell disease research for high school
students.Other partners on the grant include the University of Alabama, which,
like Johns Hopkins, has a long history of sickle cell disease research and care.
In February, The Johns Hopkins Hospital opened an urgent care
center that specializes in treating sickle cell patients experiencing acute
pain. In 2000, Hopkins opened an adult sickle cell disease center that focuses
on chronic care.
|
New hope for
bone marrow patients - An
advance in stem cell research could one day give hope to patients in need
of bone marrow transplants or blood transfusions, scientists have said.
Edinburgh experts used blood stem
cells from mice to mimic how humans produce the stem cells and found they
were able to multiply them by 150 times. They
hope their findings will lead to efficient production of blood stem cells
in the laboratory. They could
then multiply in the body to renew a patient's blood supply.
The body generates billions of
blood cells every day, which are produced by blood stem cells in the bone
marrow tissue. These include
red blood cells, which deliver oxygen to different organs, and white blood
cells, such as lymphocytes and macrophages, which play an important role
in the body's immune system.
http://news.bbc.co.uk/2/hi/uk_news/scotland/edinburgh_and_east/7507752.stm
|
The University of Wisconsin Pain & Policy Studies Group
(PPSG) Releases new Documents for Pain Management
· Achieving Balance in Federal and State Pain Policy: A Guide to Evaluation (Fifth edition),
http://www.painpolicy.wisc.edu/Achieving_Balance/EG2008.pdf
· Achieving Balance in State Pain Policy: A Progress Report Card (Fourth edition)
http://www.painpolicy.wisc.edu/Achieving_Balance/PRC2008.pdf
These resources are part of the PPSG’s continuing pain and public policy research program.
The Evaluation Guide is the fifth in a series of evaluations of federal and state pain policies. The Progress Report Card quantifies state pain policies, and tracks progress to promote pain management and reduce policy barriers by comparing 2008 state policy grades with those from 2000, 2003, 2006, and 2007. These two reports are important tools that can be used by government and non-government organizations, as well as policy-makers, healthcare professionals, and advocates to understand the policies in their state that reinforce the right to pain management, or that can hinder patient access to effective treatment.
Visit the PPSG website at www.painpolicy.wisc.edu to view or download these reports, as well as a national press release, Frequently Asked Questions, and a summary of grade
changes
Texas Program targets sickle cell disease
Desmond Woods tried to tough it out the morning he woke up with pain
pulsating through his body. But by that night, he could no longer stand what is
a common and debilitating effect of sickle cell disease.
"It’s like being stabbed over and over," said Woods, 27, of Fort
Worth. "All my joints were just aching, and I was in tears crying because
of the pain."
Like other adults with the disease, Woods has been in and out of hospitals
searching for relief. Getting care can be difficult. Some medical workers
"don’t even know what sickle cell is all about," he said. To address
the concern, Harris Methodist Southwest Hospital is spearheading a program to
close the gap in care for adults with sickle cell disease. Tarrant County Public
Health, the Sickle Cell Disease Association and several area hospitals are also
working on the project.
Goals include:
- Reducing quick-fix emergency-room visits by helping patients better manage
pain.
- Putting protocols in place so patients get aggressive care as soon as they
arrive in the emergency room.
- Encouraging all Tarrant County hospitals to adopt the protocols.
- Developing a day clinic and finding physicians to manage the patients.
In Texas, infants are screened for the disease and children receive care
through pediatric specialists, said Mary Robinson, vice president of patient
care services at Harris Methodist Southwest. But access to care changes when
patients turn 18. Tarrant County has several comprehensive pediatric programs
for children with sickle cell disease, said Linda Humphries, clinical nurse
specialist at Harris Methodist Southwest. But once those children grow up, they
tend to fall through the cracks.
"They’re not finding consistent care, so they start using the ER as
their source of treatment for sickle cell," she said. Along with acute pain
in their joints and backs, patients often are dehydrated when they arrive at the
hospital. The kidneys, spleen, liver and other organs can be damaged. Pneumonia,
urinary tract infections, gallstones and joint destruction can lead to lengthy
hospitalizations. "This year I’ve been hospitalized at least four or five
times," Woods said.
By teaching adults to identify triggers — including stress, infection and
weather changes — the hope is they will be better able to manage their disease
and avoid hospitalizations, Robinson said. When patients do end up at the
hospital, knowing how to treat them aggressively will also make a difference.
Decades ago, many sickle cell patients did not reach adulthood; today, many
live to their 40s. "They are surviving longer and they are still leading
productive lives," Humphries said.
New
Pain Advocacy Resource at www.inthefaceofpain.com
Sickle Cell Disease is featured in In
the Face of Pain®, a new online advocacy toolkit designed to
help healthcare professionals and patient advocates achieve greater awareness
and understanding of undertreated pain as a serious national health problem.
In the Face of Pain
is an interactive toolkit that enables advocates to create individualized action
plans, educational materials, and presentations tailored to a specific
pain-related topic. The toolkit –
which can be accessed at www.inthefaceofpain.com
– serves as a one-stop location for pain-related statistics and provides
guidance on implementing advocacy outreach through various channels, including:
- Legislative
- Media
- Community
groups
- Professional
organizations
“We hope this toolkit will be a valuable resource for
patients, caregivers and healthcare professionals as they work to alleviate
unnecessary suffering and improve pain care practice and policy through
education and advocacy,” said Pamela Bennett, RN, BSN, Executive Director,
Healthcare Alliance Development at Purdue Pharma L.P., which developed the In
the Face of Pain Online Advocacy Toolkit.
Caution a must for athletes with sickle-cell trait
http://www.orlandosentinel.com/sports/orl-ucfside1908jul19,0,564522.story
Athletes who possess the sickle-cell trait can play competitive sports but
should be monitored by trainers if they participate in intense workouts,
according to guidelines published by both the NCAA
and the National Athletic Trainers Association.
The Orange County medical examiner found that symptoms associated with
sickle-cell trait caused UCF football player Ereck Plancher to collapse and die
after an off-season workout on March 18.
The 2008-09 NCAA Sports Medicine Handbook urges athletic trainers to exercise
caution when supervising athletes diagnosed with the blood disorder, as UCF
officials confirm Plancher was in 2007. Sickle-cell trait can hamper the ability
of cells to carry oxygen when triggered by physical stress, a condition called
sickling.
"The harder and faster athletes go, the earlier and greater the sickling,"
the handbook states. "Sickling can begin in only two to three minutes of
sprinting, or in any other all-out exertion of sustained effort, thus quickly
increasing the risk of collapse. Athletes with sickle-cell trait cannot be
conditioned out of the trait and coaches pushing these athletes beyond their
normal physiological response to stop and recover place these athletes at an
increased risk of collapse."
Even the most fit athletes with the trait can experience a collapse, the NCAA
warns.
Plancher is the 10th athlete between the ages of 12 and 19 to die after intense
physical exertion from complications related to sickle-cell trait, according to
NATA, which in 2007 released a "consensus statement" in which it
warned trainers across the country that athletes with the sickle-cell trait were
at risk during "intense exertion." Scott Anderson, head athletic
trainer at the University of Oklahoma and co-chair on the task force that
produced the NATA statement, said there was a lack of knowledge about the trait
within the athletic population so the goal was to educate across the board. NATA
suggests screening athletes for the trait and says 64 percent of Division I-A
schools who responded to a survey do test for it. UCF is among those schools.
Also see http://www.orlandosentinel.com/sports/orl-ucfbox1908jul19,0,1811971.story
http://www.orlandosentinel.com/sports/college/orl-ucftrait1908jul19,0,7380501.story
Ereck Plancher's death has been linked to a single genetic flaw that millions
of Americans share. It's called sickle-cell trait, and many of those who
have it never know they do. That's because it rarely causes symptoms and is not
even considered a medical condition or disease.
Yet an expert said Friday that some people with sickle-cell trait are vulnerable
to sudden death under severe stress -- such as heat, physical exertion and
dehydration. The reasons are not clear, however, and doctors say most with the
trait have nothing to fear.
"It only very rarely leads to problems -- it's almost always benign,"
said Dr. James R. Eckman, an expert in sickle-cell trait and a professor of
hematology and oncology at Emory University in Atlanta. "But under the
extremes of human endurance, there can be problems. People need to understand
this is a very unusual situation." There is one important caveat: Those
with the trait can pass the errant gene on to their children. And if both
parents have it, they have a one-in-four chance of having a child with
full-scale sickle-cell disease. That's why African Americans and people in other
risk groups are encouraged to find out whether they carry the gene. Beyond that,
Eckman said, those with the trait do not have medical concerns in most
circumstances.
One exception may be under extreme physical duress. Eckman said research
suggests that exertion, dehydration and heat may trigger the distortion of red
blood cells that can impede flow and starve organs of needed oxygen. But he said
that risk is very small and can be reduced even further if athletes take basic
precautions by drinking plenty of fluids and not overdoing it. And that's good
advice for everyone -- even those without sickle-cell trait.
"Again, this is very rare," Eckman said. "In most cases, a person
with sickle-cell trait does not have any symptoms, and they should be able to
participate in all sports."
Sickle: A sickle crisis? (2008)
A Health outcomes study group in England, NCEPOD, was pleased to undertake a
review of current haemoglobinopathy mortality, to obtain broad baseline data and
make recommendations to alter practice. In this way, we hope to contribute to
improving the quality of life of patients – whose numbers and attendances at
health care centres are inevitably going to increase. A Full text PDF of the
report and summary slides are available at
http://www.ncepod.org.uk/2008sc.htm
June 2008
Goals for Health People 2020 being set, Public Comment
Invited
The Office of Disease Prevention
& Health Promotion, U.S. Department of
Health and Human Services. wants public comment on setting the goals and
agenda for Healthy People 2020 (HP2020) Genetic blood diseases including sickle
cell disease needs to be a priority for future funding and research. Do to
http://www.healthypeople.gov/hp2020/comments/
to add your comments
New on-line course, Increasing Patient Access to Pain Medicines around the World:
Improving National Policies that Govern Drug Distribution
This course is about the relationship between government policies that affect the medical availability of opioid analgesics and patients who experience moderate to severe pain. It is critically important for health care professionals, government drug regulators, and advocates involved in palliative care and pain relief to understand the government policies that control opioid analgesics and how they can block or ensure patient access to opioid analgesics.
It was designed to provide a synthesis of the critical background material and current methods that have been developed to improve national policies governing medical availability of essential pain medicines for cancer and HIV/AIDS patients. It is intended for an international audience of health care professionals, local and national policy makers, palliative care advocates, government drug regulatory personnel, national health policy advisors, and health policy scholars with an interest in pain management or palliative care.The course is accessible at no cost and is self-paced so that it can be taken at any time that is convenient for the learner. It has 7 lessons each with required readings. Upon successful completion of the course the learner will receive a certificate.
Lesson 1: Understanding the Relationship between Pain and Drug Control Policy
Lesson 2: The Role of International and National Law and Organizations
Lesson 3: Barriers to Opioid Availability and Access
Lesson 4: WHO Guidelines to Evaluate National Opioids Control Policy
Lesson 5: WHO Guidelines to Evaluate National Administrative Systems for Estimating Opioid Requirements and Reporting Consumption Statistics
Lesson 6: WHO Guidelines on Procurement and Distribution Systems for Opioid Analgesics
Lesson 7: How to Make Change in your Country
The development of this course was supported by the National Hospice and Palliative Care Organization and the Foundation for Hospices in Sub-Saharan Africa.
For more information, and to access the course, please visit: http://www.painpolicy.wisc.edu/on-line_course/welcome.htm
Children with sickle cell disease (SCD) have a
significantly sharper decline in lung function
Children with sickle cell disease (SCD) have a significantly sharper decline
in lung function with age when compared to other children of the same race and
age. Furthermore, that loss of function appears to be linked to a restrictive
rather than obstructive pattern, contrary to previous research that has focused
on obstructive or asthma-like patterns in loss of lung function with sickle cell
disease. The research was presented at the American Thoracic Society's 2008
International Conference in Toronto on Sunday, May 18.
"The restrictive pattern of decline is supportive of early injury or
inflammation resulting in progressive changes in lung volumes across age,"
said lead researcher Joanna MacLean, M.D., of the department of respiratory
medicine at Children's Hospital at Westmead in Australia. "We expected that
children with sickle cell disease would show greater loss of lung function than
other children, but this had never been quantified, nor was the pattern of
decline clear."
To determine the patterns of loss of lung function, the researchers analyzed
1,357 lung function results that were completed between January 1989 and January
2005 on from 413 children with SCD during routine sickle cell clinical visits.
Lung volume measurements were also included for 1,129 records.
They found that over time, there was a significant decline in lung function
shown by a decline in the percent predicted values for all spirometry measures
except FEV1/FVC ratio, a marker of airway obstruction. The pattern of decline of
lung volume confirmed a restrictive pattern with an average loss of 2 percent
per year of total lung capacity.
This is the first study to examine loss of lung function in children with sickle
cell disease over time in a large number of children. "Most studies of lung
function in children with sickle cell disease are either cross-sectional or have
limited longitudinal follow-up," said Dr. MacLean. "The strength of
our study is that data was collected from a large number of children with sickle
cell disease across childhood."
They also found that of children with SCD, hemoglobin-beta genotype SS was
associated with an increased risk of loss of lung function across childhood. The
hemoglobin SS genotype is more common than hemoglobin SC genotype (one in 600
versus one in 800 life births) and is associated with more complications than
hemoglobin SC disease. This pattern of decline in lung function may simply
reflect a greater risk of lung injury in this group, but alternatively may also
suggest differences in response to lung injury or lung repair with different
genotypes of sickle cell disease.
"Our findings confirm that lung disease in SCD begins in childhood,"
explained Dr. MacLean. "Using statistical modeling, we are able to predict
the rate of decline of lung function. These results can be used as a baseline
against which results from intervention studies can be compared."
While changes in treatment over the last 20 years have led to a significant
reduction in overall mortality and morbidity for children with SCD, prospective
longitudinal studies focusing on the identification and treatment of sickle cell
associated lung disease are needed to continue to improve the long term health
of children and adults with sickle disease.
"The results of this project emphasize the need for further investigation
into the pathophysiology and treatment of lung disease in children with sickle
cell disease," concluded Dr. MacLean. http://www.medicalnewstoday.com/articles/108003.php
Researchers
Develop Stem Line With Sickle Cell Mutation
Using a faster and more efficient method of reprogramming adult stem cells to
an embryonic stem cell-like state, Johns Hopkins researchers developed a human
stem cell line containing the mutation associated with sickle cell anemia.
"We hope our new cell lines can open the door for researchers who
study diseases like sickle cell anemia that are limited by the lack of good
experimental models," Linzhao Cheng, an associate professor of gynecology
and obstetrics, medicine and oncology, and a member of the Johns Hopkins
Institute for Cell Engineering, said in a prepared statement. The researchers
found that using a viral protein called SV40 large T antigen, along with four
genes known to trigger adult cells to reprogram into embryonic-like stem
cells, resulted in reprogramming within 12 to 14 days, compared to three to
four weeks when large T wasn't used. "Not only did T speed up
reprogramming, we also found that it increases the total number of
reprogrammed cells, which is great because often in reprogramming, not all
cells go all the way," Cheng said.
One challenge to studying blood
diseases like sickle cell anemia is that blood stem cells can't be kept alive
for very long in the lab, so researchers need to keep returning to patients for
more cells to study," Cheng said. "Having these new cell lines
available might enable some bigger projects, like screening for potential
drugs."
http://www.washingtonpost.com/wp-dyn/content/article/2008/05/29/AR2008052902412.html
New
Medical Internet Streaming Videos on Sickle Cell Disease Management
The NHLBI Pulmonary and Vascular Medicine Branch has produced six new 45-minute lectures on sickle cell disease. The lectures are intended
for physician trainees, nurses, nurse practitioners, physician assistants, social workers and other ancillary health care workers. The
lectures cover vaso-occlusive crisis, acute chest syndrome, hemolysis-associated pulmonary hypertension, genetics of sickle cell
disease and thalassemia, pain management, and psychosocial issues. This education project was conducted by Lori Hunter, CRNP and James Nichols,RN.
You will need the free Real Player on your PC to watch. The link is:
http://dir.nhlbi.nih.gov/labs/pvmb/nursing-education-lectures.asp
Call to treat sickle cell better in UK
Treatment of sickle cell anaemia is compromised by health
workers' lack of knowledge, a report warns. The first national survey of the
disease found seriously ill patients were not offered support from sufficiently
experienced staff. Patients' use of painkillers was not effectively monitored,
in some cases leading to in fatal overdoses, it said. The inherited genetic
disease affects the ability of the red blood cells to carry oxygen around the
body. It can cause severe pain and damage to the organs.
The charity, the National Confidential Enquiry into Patient Outcome and
Death, carried out the research into the deaths of 55 patients with sickle
disease or the related condition thalassaemia. Of 19 patients in the study who
had complained of pain and who subsequently died in hospital, nine had been
given excessive doses of painkillers and five of those patients died because of
complications due to overdose. The report "A Sickle Crisis?" also
found the cause of death of some patients was unclear.
Professor Sebastian Lucas, one of the study authors, said: "We were
surprised that our review found such a high number of cases where we did not
know the actual cause of death. "This is a wake-up call to the clinical
community. Sickle cell disease is as common as cystic fibrosis, yet less is
known about the severe complications that can lead to death in sickle cell
disease patients." The report also found the take-up of vaccinations by
sickle cell disease patients at their GP practice was low. Dr David Mason,
co-author of the study, said: "Doctors and nurses need to be more familiar
with what needs to be done if patients' vitals signs become abnormal. "We
need a multidisciplinary approach to acute pain management and regular reviews
of therapy to control pain adequately."
Around 12,000 people in the UK have sickle cell disease and it is one of the
most common reasons for hospital admissions. Sickle Cell mainly affects people
of Afro-Caribbean, African, Eastern Mediterranean, Middle East and Asian
origins. Thalassaemia mainly affects people from Asia, the Mediterranean and the
Middle-East. The demographics of where patients live have changed. At one time
sickle cell disease was mostly found in London and the West Midlands, but it is
now across the UK. http://news.bbc.co.uk/2/hi/health/7408179.stm
Nigeria launches Sickle Cell Journal
Volume 1 issue number 2 of the colorful and informative Sickle Cell Journal
is reaching thousands of Nigerians with information about sickle cell disease.
Editor, author and developer, Ayola Olajde, has published a magazine dedicated
to patient stories, education from clinicians and resource lists every two
months. The Journal can be viewed at http://www.geocities.com/scdjournal/index.html
New Sickle Cell Support Group for Nigeria - CarDan Sickle
Cell Centre
SSickle
Cell and Young Stroke Survivors a registered charity based in
London
, led by Mrs Carol Nwosu (Chief Executive Officer (CEO), has started a new
African project in Owerri Imo State Capital of Nigeria, called CarDan Sickle
Cell Centre.
The
project since its inception 3 months ago has already brought a new lease of
life to families’ affected by sickle cell disease. The Centre has been
providing free drugs, information on management of sickle cell disease and counseling
for patients and their families affected by Sickle Cell disease.
The
Centre has already reached out to dozens of down-hearted families and children
who are affected by Sickle Cell disease, through the placement of jingles at
different Radio and Television Stations in the country and also through the
participation of the CEO in various TV and Radio programs designed to sensitize
the public about the importance of knowing their genotype to reduce the number
of Sickle cell births and the coping and management of Sickle cell disease for
parents and those looking after affected children.
According
to the Overseas Project Director, Chief Eric Amadi, plans are being made to
start an intensive public awareness campaigns in various local communities
from July 2008 tagged “KNOW YOUR GENOTYPE”.
The
centre organizes Saturday Club every first and last Saturday of the month,
which provides a forum for children affected by sickle cell and their family
to interact with other children. This gives the children and their parents a
sense of belonging and ease off the tension and depression that are associated
with the condition. All these services are free. The primary objective of the
centre is to make those affected by sickle cell disorder understand that they
can still make progress in life and to convince their parents that sickle cell
disorder is not a taboo, curse or death sentence.
The
CEO, Mrs Carol Nwosu assures the public that CarDan Sickle Cell Centre is a
new hope for children and their families in the whole of
Nigeria
. She is optimistic that with the campaign “KNOW YOUR GENOTYPE” being
vigorously pursued, there will be reduction in sickle birth and consequently,
children and young people affected by sickle cell disease will be able to
manage their crisis and live a better life.
For
further contact:
Carol Nwosu, Chief Executive Officer
Tel:
020 7635 98 10 Email: CarolNwosu@aol.com or Carolnwosu@scyss.org
Eric
Amadi, Overseas
Project Director
New Sickle Cell Resource in Abuja, Nigeria
ULOMA UKOHA, SICKLE CELL DISEASE COUNSELLOR,
MEDICAL SOCIAL WELFARE DEPT.,
P.M.B.425, GARKI, ABUJA Nigeria
EMAIL: tobiahukoha@yahoo.com
Tel:+2348036009351 +2348052083939
April 2008
Doctors at Johns Hopkins say Pamela Newton is the first
adult worldwide to be cured of sickle cell disease using an experimental bone
marrow transplant.
Fifteen months ago, the pain from Pamela Newton's sickle cell disease was
excruciating. She spent more time in the hospital than in her Capitol Heights
apartment. She was on 15 pain pills a day, all heavy narcotics. She was bleeding
regularly and needed daily transfusions of platelets.Today, doctors at Johns
Hopkins Hospital say that Newton is one of the first adults in the world to
be cured of sickle cell disease - and the first using an experimental bone
marrow transplant that could cure thousands like her who have been told they
will never get better.
Word of a breakthrough gives hope to the roughly 80,000 Americans - and millions
around the world - who suffer from this debilitating and usually fatal disease,
which is predominant among African-Americans and Hispanics.Bone marrow
transplants have been used to treat sickle cell disease for 20 years - but
almost all of the 200 cured have been children. The treatments - high doses of
chemicals that knock out the patient's own marrow before the transplant - are so
toxic that adults with sickle cell-induced organ damage would be unlikely to
survive them.
Brodsky said his team's procedure, developed by Dr. Ephraim Fuchs and Dr. Leo
Luznik, is less toxic. They say they no longer believe they have to destroy as
much of the patient's marrow as they once did - so they administer just enough
chemotherapy to suppress the immune system. That dose keeps patients from
rejecting the new marrow without harming their organs.This change allows
transplants for adults, as well as children. Because the procedure occurs later
in life, it relieves parents of the burden of making the decision for their
youngsters (even in children, the sickle-cell transplant mortality rate is 5
percent to 10 percent). Instead, it allows the adult patient to see how severe
the disease is before deciding whether to have a transplant.
Another transplant obstacle has been finding a perfect bone marrow match - a
full sibling's marrow provides the best chance. But there's only a 25 percent
chance that even a full sibling will be a match. And since sickle cell is
inherited, siblings may also have the disease. That leaves about a 10 percent
chance that a patient will find a suitable donor. Brodsky's procedure requires
just a half-match - meaning that children and parents of the patient could be
suitable donors.
Three days after the transplant, the patient is given a high dose of a drug
called cyclophosphamide. Just as the bone marrow is taking root, the drug kills
off the donor's lymphocytes - blood cells that are part of the immune system.
The cyclophosphamide spares the donor's stem cells and allows them to establish
new blood cells and a new immune system. The nascent immune system is re-trained
to see the patient's body as friend, not foe. This prevents the patient from
rejecting the transplanted bone marrow - and prevents the newly developing
immune system from http://www.baltimoresun.com/news/health/bal-te.sickle30mar30,0,6112155.story
22-month-old son of Jazz's Boozer
battles sickle cell, shows dad how recovery is done
The 22-month-old hugs the ball to his chest as he bounces
around the room before his dad sweeps him up for a father-son grin and
giggle.Carlos Boozer has had to recover from a host of injuries that come with
being a power forward in the NBA, yet he can only imagine what his son has
endured in the last year.
Carmani has had chemotherapy, made countless trips to the
doctor and spent weeks in the hospital before and after a bone-marrow transplant
that his parents hope wiped out his sickle cell anemia.Six months later, Carmani
is still free of the blood disorder, but Boozer and his wife, CeCe, have another
six months of angst before knowing whether the procedure was a
success."We're just looking forward to that day when he's clear
completely," Boozer said.
They just aren't sure when or if that day will come. If
it does, the Boozers will know that they made the right call in a series of
difficult choices that ultimately led to deciding on a transplant and a search
for the right donor. They found one by producing their own through in-vitro
fertilization.
Two of the healthy embryos they created were implanted
and Cece Boozer had twin boys last July. After Carmani had chemotherapy to
attack his sickle-cell producing bone marrow, he was injected with stem cells
from one twin's umbilical cord to stimulate the growth of new bone marrow in the
hope it will produce healthy blood cells. http://www.usatoday.com/sports/basketball/2008-03-27-2096859841_x.htm
Cell-phone microscope takes diagnostics into underserved
communities
What began as a relatively simple class project in Prof. Dan Fletcher's
undergraduate optics and microscopy course at the University of California at
Berkeley has resulted in the development of a handheld microscopic imaging and
transmission device that may have implications for healthcare in Third World,
rural, and other underserved communities.
When Fletcher challenged his students to combine current readily available
technologies with a potential application that could improve healthcare in
underdeveloped countries, little did he know that his students would respond
with such enthusiasm and ingenuity. They took a standard cell phone and modified
it with a series of off-the-shelf lenses to achieve 5x-60x magnification of a
blood or tissue sample, utilizing the phone's internal camera to capture and
transmit the resulting images (see Figure).
"I was trying to give them something relevant to think about," says
Fletcher, who is associate professor of bioengineering. "In developing
world-health efforts there is a growing realization that smart phones can do a
lot for healthcare."
The initial prototype of the cell-phone microscope--dubbed "Cellscope"--utilizes
a Nokia cell phone with an embedded 3.1 megapixel camera. The phone's pocket
holster provides the mount for the optical train. Illumination is provided by
several white-light LEDs in a ring-illuminator design, and the detection sensors
are based on standard CCD/CMOS chips. Once captured, the images are transmitted
to a laptop using a Bluetooth attachment to the phone. Total cost of the first
prototype, built from off-the-shelf components, was $75. http://www.laserfocusworld.com/display_article/324816/12/none/none/TECHN/Cell-phone-microscope-takes-diagnostics-into-underserved-communitie
Medical trial to test Teflon-like liquid as a blood
replacement
200-patient human trial about to start
at the University of Miami School of Medicine into Oxycyte, a Teflon-like liquid
that carries four times the oxygen levels of real, red blood cells to brain
tissue damaged by traumatic injury. Without that continuous flow of oxygen,
brain cells can die within hours. If
it succeeds in civilian trials here, it could be on the battlefield in Iraq in a
year or two to help soldiers who suffer traumatic brain injury from IEDs -
improvised explosive devices. TBI has been called "the signature
wound" of the Iraq war, with 1,882 cases treated to date. The Department of
Defense has signaled its interest in Oxycyte by funding $1.9 million of the $4
million cost of the trials.
If we can interrupt the cascade of cell death during the hours
and days after the initial brain injury, we can save someone from a lifetime of
disability," says Dr. M. Ross Bullock, director of clinical neurotrauma at
the University of Miami School of Medicine. He's the lead investigator on the
trial, which will take place over the next year at the Miami Project to Cure
Paralysis. At the same time, other researchers at the Miami Project will be
studying Oxycyte for use in spinal cord injury, says Dr. W. Dalton Dietrich, the
project's scientific director. "If we can improve
oxygen flow to the compromised area of the spinal cord, and start early enough,
some patients can probably benefit," he says.
Other doctors are researching whether Oxycyte can help with
stroke, heart attack, cancer, sickle cell anemia, even hard-to-heal diabetic
wounds and bed sores. They acknowledge it sounds too good to be true. "If
this works, it will be very big," says Dr. Harvey Klein, chief of the
Department of Transfusion Medicine at the National Institutes of Health, who is
not involved in the university trials. "But my enthusiasm is tempered by 20
years of experience with these drugs where they haven't worked.
"The proof of the pudding will be in the clinical
trials." Dietrich expresses hope: "We do so many
complicated things trying to heal injuries. But the simplest way is to improve
the flow of blood and oxygen. At the end of the day, if tissue is starved of
oxygen, it dies."
http://www.pressofatlanticcity.com/114/story/114213.html
IVF with Genetic and Chromosomal Testing of Embryos Can Improve Chances of
Having a Healthy Child
In vitro fertilization (IVF) combined with a procedure called Preimplantation
Genetic Diagnosis (PGD) can improve a woman's chances of having a healthy baby
when there is a family history of inherited genetic diseases or conditions, or
if a patient has experienced miscarriages caused by embryo chromosomal
abnormality.
Embryo biopsy with PGD is a procedure utilized in conjunction with IVF to
screen for genetic and/or chromosomal problems before an embryo is selected for
uterine implantation. This is also called "pre-pregnancy diagnosis". A
number of genetic disorders and/or chromosomal abnormalities can be identified
through PGD including Muscular Dystrophy, Hemophilia, Sickle Cell Anemia, Cystic
Fibrosis, Tay Sachs, Fragile X Syndrome, Turner Syndrome, Huntington disease and
Down syndrome.
"PGD allows us to differentiate abnormal embryos from the normal
embryos, so that only normal embryos are transferred to the uterus," said
Dr. Andrew Levi," a board certified reproductive endocrinologist and
founder of Park Avenue Fertility and Reproductive Medicine in Trumbull,
Connecticut. "In select patients, IVF with PGD can significantly decrease
miscarriage rates and help women at risk for miscarriage achieve a successful
pregnancy."
Dr. Levi reports that the majority of couples who proceed with IVF in
conjunction with PGD either have experienced recurrent miscarriages; prior
unexplained IVF failures; have conceived with a fetus or child with a chromosome
abnormality; or have an identifiable or inheritable genetic medical conditions.
IVF entails stimulation of a woman's ovaries to obtain multiple eggs,
subsequent removal of the eggs from the woman's body, fertilization of the eggs
with the patient's partner's sperm, and transfer of the fertilized eggs
(embryos) back to the woman's uterus. Embryo biopsy with PGD is performed
typically three days after fertilization and before embryo transfer.
http://www.prweb.com/releases/2008/3/prweb785124.htm
For more information
http://www.emedicine.com/MED/topic3520.htm
http://www.hfea.gov.uk/en/910.html
March 2008
NHLBI Announcement: Institute to Realign its Sickle Cell
Disease Research Program
The National Heart, Lung, and Blood Institute (NHLBI) announced today a
comprehensive and innovative restructuring of its research program in sickle
cell disease (SCD).SCD is a serious inherited blood disorder that most
commonly affects people with origins in Africa, Latin America, the Middle
East, or the Mediterranean.Since 1972, the NHLBI has developed and maintained
a major research effort to improve the lives of individuals with SCD.The
studies have led to a number of effective approaches for the management and
treatment of the disease, and today’s patients live longer and have a better
quality of life than was the case in previous generations.However, there is no
cure for SCD, and therapies that exist do not benefit all patients.
The recent issuance of the Institute’s Strategic Plan (http://apps.nhlbi.nih.gov/strategicplan/)
and the scheduled renewal of the Comprehensive Sickle Cell Centers (CSCC)
program provided an opportune time to rigorously assess the NHLBI program in
SCD.The National Heart, Lung, and Blood Advisory Council conducted an
extensive review of the Institute’s research and training portfolio in SCD,
taking into account responses received to a public solicitation for input from
patients and lay and professional constituencies about the top scientific and
clinical priorities.A detailed report on the Council’s findings and
deliberations can be found at http://www.nhlbi.nih.gov/meetings/workshops/Sickle-Cell-Announcement.htm.
Recommendations include the following.
- Basic science — Research should focus on disease mechanisms; new
treatment approaches; genes and genetics; molecular biology and
biomarkers; vascular biology; erythropoiesis and red blood cell biology;
and animal models.Progress in this area will require stimulation of
investigator-initiated research applications, with careful attention to
appropriate peer review, and expanded involvement of scientists from areas
other than hematology.
- Translational and clinical research — Emphasis should be placed on
pain pathophysiology and management; fetal hemoglobin induction; trials of
promising alternatives to hydroxyurea; approaches targeting disease
pathophysiology; curative therapies; and prediction, prevention, and
management of severe manifestations and end-organ damage.The NHLBI should
provide research resources such as databases for genotype–phenotype data
and repositories for biological samples, encourage resource-sharing among
investigators, and assist investigators in bringing clinically relevant
basic science discoveries to the point where they are ready for human
trials.
- Participation in clinical research — The Institute should increase the
pool of potential participants for interventional and observational
studies and to provide opportunities for geographically broad
participation by individuals and investigators in research.
- Translation and dissemination to the community — Timely and thorough
application of research findings should be promoted through development of
evidence-based practice guidelines and their widespread dissemination via
educational programs for physicians, other health-care providers, and
patients.
Based on the NHLBAC recommendations, the NHLBI is moving forward with the
following innovations to its SCD portfolio.
- Support for basic research will be expanded through funding of
investigator-initiated grant applications and through NHLBI-initiated RFAs
(requests for applications) focused on the pathophysiology of SCD, the
biology of pain in SCD, fetal hemoglobin switching, and genetic modifiers
of disease expression and progression.
- The Institute will reconfigure the CSCC program into a Basic and
Translational Research Program by funding meritorious projects submitted
in response to the recent RFA (http://grants.nih.gov/grants/guide/rfa-files/RFA-HL-06-008.html).The
program will emphasize fundamental investigations and their translation
into initial studies in humans, as well as community translation to
promote evidence-based clinical practice.SCD Scholars programs for the
career development of young investigators and
Summer-for-Sickle-Cell-Science programs for research training and
mentoring of high-school students also will be supported as part of a
larger effort by the Institute to prepare the next generation of
scientists to advance the field of SCD research.
- The NHLBI has requested comments from its constituency regarding
interest in joining the RAID (Rapid Access to Interventional Development)
program of the National Cancer Institute, which provides contract services
to aid in the translation to the clinic of potential new therapeutic
agents originating in academia (http://grants.nih.gov/grants/guide/notice-files/NOT-HL-08-111.htm).The
RAID offers an avenue for swift progress in evaluation of promising
therapeutic approaches such as innovative drugs to stimulate fetal
hemoglobin production.
- The NHLBI will develop a new Clinical Trials Research Network (CTRN)
designed to open participation in clinical research to a much larger
number of investigators and individuals with SCD than is currently
possible.Structured similarly to the Children’s Oncology Group (http://www.childrensoncologygroup.org/,
which offers clinical trial participation to all eligible subjects and
investigators, the CTRN will, in time, subsume the current SCD Clinical
Research Network (http://grants.nih.gov/grants/guide/rfa-files/RFA-HL-05-006.html).
- The NHLBI will expand its support of genomic research in SCD beyond the
boundaries of current efforts being conducted within the framework of the
CSCCs (http://grants.nih.gov/grants/guide/rfa-files/RFA-HL-05-006.html)
by developing a program like the Framingham SHARe (SNP Health Association
Resource— http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000007.v2.p1)
with contributions of genotypic and phenotypic data from many
investigators and their patients and free access to qualified researchers.
- Finally, the Institute will undertake a focused effort to develop
evidence-based guidelines for the care of individuals with SCD across the
life-span that can be used by health-care practitioners throughout the
world.An educational campaign will be launched, in partnership with the
Sickle Cell Disease Association of America and other patient advocacy
groups and professional organizations, to raise awareness about SCD and
bring nationwide attention to its diagnosis and treatment.
By implementing these recommendations, the NHLBI intends to take advantage
of existing scientific opportunities and make SCD resources more widely
available, better serving both the SCD research and the patient communities.
Inquiries may be directed to:
Susan B. Shurin, M.D.
Deputy Director
National Heart, Lung, and Blood Institute
Building 31, Room 5A48
9000 Rockville Pike
Bethesda, MD 20892- 2486
Telephone: (301) 496-1078
Fax: (301) 402-0818
Email: Shurinsb@nhlbi.nih.gov
http://public.nhlbi.nih.gov/newsroom/home/GetPressRelease.aspx?id=2556
NIH Hydroxyurea Consensus Conference- Panel
finds hydroxyurea treatment is underutilized for sickle cell disease
Improved access to care and education about the treatment are deemed
priorities See the entire conference and view the
consensus statement at http://consensus.nih.gov/2008/2008SickleCellCDC119main.htm
An independent panel convened this week by the NIH concluded that the use
of hydroxyurea for sickle cell patients should be increased in adolescents and
adults. Hydroxyurea was approved by the U.S. Food and Drug Administration for
use in adults with sickle cell anemia in 1998, but provider and patient
concerns have hindered its use, depriving many patients of its proven
benefits. Research has shown that sickle cell patients on this drug experience
fewer pain crises and hospital admissions, and the panel advocated increased
utilization of this drug with appropriate monitoring. Additionally, the panel
concluded that the risks of serious side effects of hydroxyurea appear to be
lower than previously expected. Furthermore, these risks are acceptable when
compared to the risks of untreated sickle cell disease in adolescents and
adults.
"The compelling benefits of hydroxyurea warrant increased adoption of
this drug as a frontline therapy in adults with sickle cell disease,"
reported Dr. Otis Brawley, conference panel chair, Professor of Hematology,
Oncology, Medicine, and Epidemiology at Emory University, and Chief Medical
Officer of the American Cancer Society.
For younger patients, however, safety and efficacy data are limited but
supportive of hydroxyurea treatment. Although the panel was unable to
definitively recommend broad pediatric use of the drug at this time, it is
hoped that results from ongoing clinical trials will help to resolve remaining
questions.
The pain and complications associated with sickle cell disease can have a
profound impact on patients' quality of life, ability to work, and long-term
health and well-being. Sickle cell disease often causes episodes of severe
pain, and decreased life span due to infections, lung problems, and stroke.
Worldwide, millions suffer from sickle cell disease, most commonly people
whose families come from Africa, South or Central America, Caribbean islands,
Mediterranean countries, India, and Saudi Arabia. In the U.S., this inherited
blood disorder affects 50,000 to 100,000 people. In addition, approximately 2
million Americans carry the sickle cell trait, which increases the public
health burden as this disorder is passed on to future generations.
Surveys indicate that a large proportion of patients with sickle cell
disease are ethnic minorities, poor, and from underserved communities. For
many, limited resources and lack of culturally competent clinicians set the
stage for suboptimal care. Recurring pain crises associated with the disease
can severely limit individuals' ability to sustain employment or educational
efforts, aggravating problems with insurance coverage and subsequent
healthcare costs.
"This disease illuminates the limitations of our current healthcare
system," Dr. Brawley noted. "The best way to achieve optimal care
for patients with sickle cell disease is for them to be treated in clinics
specializing in the care of this disease." The panel recognized that many
patients lack a single healthcare provider to direct their sickle cell
management. Instead, there is heavy reliance on emergency and acute care
facilities to treat pain. Dr. Brawley added, "all sickle cell patients
should have a principal healthcare provider, and that provider, if not a
hematologist, should be in frequent consultation with one." Additionally,
patients often "fall through the cracks" when transitioning from
pediatric to adult care. Contributing to this problem is a lack of providers
armed with the knowledge, skills, and experience to effectively manage adults
with sickle cell disease.
In addition to identifying numerous potential barriers to hydroxyurea
treatment at the patient, provider, and systems levels, the panel called for
Medicare or Medicaid coverage of sickle cell patients of all ages.
The panel's complete consensus statement will be available later today at http://consensus.nih.gov/.
The conference was sponsored by the NIH Office of
Medical Applications of Research (OMAR) and the National Heart, Lung, and
Blood Institute, along with other NIH and Department of Health and Human
Services components. This conference was conducted under the NIH Consensus
Development Program, which convenes conferences to assess the available
scientific evidence and develop objective statements on controversial medical
issues.
The 14-member conference panel included experts in the fields of internal
medicine, family practice, hematology, oncology, pediatrics, obstetrics,
nursing, pediatric nursing, social work, pharmacology, pharmacokinetics, and
pain research, mental health, epidemiology, biostatistics, public health, and
health systems research, in addition to a public representative. A complete
listing of the panel members and their institutional affiliations is included
in the draft conference statement. Interviews with panel members can be
arranged by contacting Lisa Ahramjian at 301-496-4999 or AhramjianL@od.nih.gov.
In addition to the material presented at the conference by speakers and the
comments and concerns of conference participants presented during discussion
periods, the panel considered pertinent research from the published literature
and the results of a systematic review of the literature commissioned by OMAR.
The systematic review was prepared through the Agency for Healthcare Research
and Quality (AHRQ) Evidence-based Practice Centers (EPC) program, by the Johns
Hopkins Evidence-based Practice Center. The EPCs develop evidence reports and
technology assessments based on rigorous, comprehensive syntheses and analyses
of the scientific literature, emphasizing explicit and detailed documentation
of methods, rationale, and assumptions. The evidence report on Hydroxyurea
Treatment for Sickle Cell Disease is available at http://www.ahrq.gov/clinic/tp/hydscdtp.htm.
News Stories
http://www.cnn.com/2008/HEALTH/conditions/03/04/sickle.cell.ap/
http://seattlepi.nwsource.com/national/353611_sicklecell04.html
http://www.reuters.com/article/domesticNews/idUSN2747868120080227
For more information, visit
http://consensus.nih.gov/2008/2008SickleCellCDC119main.htm
Resources to Advocate for the Best Educational Resources
for Children with Sickle Cell Disease
We have realized that our state of Minnesota Department of Education does not recognize the neuropsychological impact of
Sickle Cell Disease(SCD) so we are working on getting that changed. As I looked around the country at other states' special education laws, I see it is pretty much the same situation in most states --- the special education category called "Other Health
Disabilities" or "Other Health Impairment" allows for provisions related to mobility, toileting, physical education class
adaptations --- but does NOT show any awareness that SCD (due to low Hg, ischemia, or hypoxia from pulmonary complications) can cause direct adverse impact for some kids on learning and memory, attention-concentration, executive function, motor skills, processing speed . So, we are working with the state special education department in Minnesota to get that changed here.
People who want to work on updating the laws which govern educational opportunities for kids with SCD in their own state can get the relevant Department of Education contact name/numbers from the State Resource Sheets (at
http://www.nichcy.org ). People are welcome to e-mail me or use my handout (attached) on "Educational Impact of Sickle Cell Disease" to advocate for changes in state education regulations.
Another big problem is that some states or insurance providers do not authorize neuropsychological testing of kids with SCD because they are unaware of the research showing that these kids have significantly increased risk of brain injuries from their disease. Kids who are tested and found to have problems can be treated when young, and will have better outcomes if treated early instead of "caught late".
So, that's why at Children's of Minnesota we are trying to do "well child neuropsychological screening" for every child, every year, regardless whether or not the school or family is reporting any problems.
Karen E. Wills, Ph.D., LP, ABPP
Pediatric Neuropsychology
Department of Psychology
Children's Hospitals and Clinics
2525 Chicago Avenue South (mailcode 17-301)
Minneapolis, MN 55404
(612) 813-6344, (fax 612-813-8263)
karen.wills@childrensmn.org
Download the following resources in Microsoft Word format by clicking on the
hyperlinks beow
Advocate
letter to State Education Dept
Sickle Cell Educational
Implications
Other
Health Disability Criteria
Sickle Cell
Library Resources
Request
for a Case Study Evalustion
Sickle
Cell Disease flyer for PLANE Program for Learning Assessment and
Neuropsychological Evaluation
PLANE
update
Sickle Cell Disease Spreads to Latinos
The painful blood disorder called sickle-cell disease is striking an
increasing number of Latino people in Colorado, according to University of
Colorado researchers. The trend in the disease — long associated with
African-Americans — is worrying because many Latinos aren't as aware of the
risks, said Kathy Hassell, medical director of the university's Sickle Cell
Treatment and Research Center.
"Obstetricians have gotten pretty good at screening African-American
women, but they don't think about Ms. Lopez or Ms. Gonzales," Hassell said.
"There's no word in Spanish for sickle cell." Hassell has been
tracking the percentage of babies born every year with a single sickle-cell gene
— the disease occurs only in those who get a sickle-cell gene from both mother
and father.
The percentage of sickle-cell carriers who are Latino has jumped from 10
percent to 32 percent in the last 20 years — a time when the Latino population
in Colorado has more than doubled, according to U.S. census figures.The Sickle
Cell Center is beginning to print educational brochures in Spanish, and it's
making sure translators are available to counsel patients.
"This may be the tip of the iceberg," Hassell said. Sickle-cell
disease is named for the crescent-shaped red blood cells that mark the illness.
Normal red blood cells are smooth and round. Because those sickle red blood
cells don't carry oxygen effectively, people with the disease are often anemic.
The Colorado center identifies about 10 new cases a year among the state's
75,000 newborns. Sickle-cell patients are vulnerable to life-threatening
infections, may have strokes as children, often die in their 40s or 50s and have
intense "pain crises" requiring hospitalization.
Preventive measures — such as daily penicillin drops for babies — can
reduce the number of organ-damaging infections, triggered because the spleen
can't effectively filter sickled blood. "It used to be that 30 percent of
children died before (age) 5 of overwhelming infection," Hassell said.
"Now, every newborn in the state is screened, and we try to send a nurse to
the family's home for education." Thursday morning at The Children's
Hospital sickle center in Aurora, 19-month-old Adrian Perez-Vaoeriano sat
tearful on his mother's lap, taking shaky breaths as the two waited for
blood-test results.
A batch of donated red blood cells was a good match, so Adrian started his
seventh red- blood-cell transfusion — a monthly six-hour ritual he'll continue
until he's at least 2 years old. Soon after he turned 1, the left side of his
belly became rock-hard, said his mother, Leivi Vaoeriano. She rushed him to
Children's Hospital, where doctors used a transfusion to clear the sickle blood
clogged in his spleen, nurse coordinator Laura Cole said. "When he's 2,
they'll take out his spleen," Cole said. Adrian's mother said she was
baffled by her son's diagnosis, which she learned about when he was about 2
months old. "I just didn't know what it was," Vaoeriano said. Some of
her family members had heard of the disease, she said, but they had no idea that
Hispanic people got it. "Everyone was confused. They said: 'Why does he
have this? We're from Acapulco,' " Vaoeriano said.
To get sickle-cell disease, a person must inherit two mutated genes — one
from each parent, Hassell said. So if the gene is cropping up more often among
Latinos, it'll eventually mean more disease. "We know this is not just an
African-American disease," said Willarda Edwards, president of the Sickle
Cell Disease Association of America, in Baltimore. "I have people from
Nebraska calling me saying, 'I'm not black, but I got this.' Anyone can,"
Edwards said.
Reaching other races
Sickle-cell disease has long been associated with African- Americans,
but the gene is also common among people of Mediterranean and Indian descent,
Edwards said, and increasingly in Latino populations. The disease probably
evolved in parts of the world where malaria is or was a problem, Edwards said.
People with one sickle gene have some protection against malaria. Newborn
screens in every state now tell parents if their child is a carrier, but since
carrying the gene doesn't cause disease, parents may forget to inform their
children later on. When two people who each carry the gene have a child, the
chance is 25 percent that the baby will have sickle-cell disease.
http://www.denverpost.com/news/ci_8516076
Bitter pill: Prescription discrimination - Minorities
face pain-med bias
Whites remain much more likely than
nonwhites to receive narcotics for pain treatment at hospital emergency rooms,
new data shows, and Boston-area patients and physicians say the stubborn
disparity leaves minorities in prolonged discomfort and can alienate them from
the health-care system.
“I find that every time I go in the ER I’m rolling the dice,” said
Magalie Jean-Michel, spokeswoman for the Greater Boston Sickle Cell Disease
Association, whose son Rashard, 14, suffers from the painful blood disorder.
“All I ask is that they give my son some type of painkiller until they get
test results back or a doctor’s approval for something stronger,” she said.
“There are physicians and nurses that are very attentive, personable and not
judgmental with treatment. But I do come across individuals I feel should not be
working in the ER.”
Narcotic-based pain treatment has risen nationally in recent years - a
worrisome issue for many medical professionals - but that increase has not
reduced the racial and ethnic disparities in prescribing medicine, according to
a January study in the Journal of the American Medical Association.
The study’s analysis of a government survey of at least 15,000 emergency
room visits in a span of 13 years at 500 hospitals nationwide showed that pain
affliction accounted for 42 percent of visits. Opioid prescribing for
pain-related visits increased from 23 percent in 1993 to 37 percent in 2005.
According to JAMA, white patients with pain were likely to receive an opioid
31 percent of the time, blacks 23 percent of the time. Twenty-four percent of
Hispanics were prescribed opioids; other racial groups including Asians were
at 28 percent.
“While quality pain-care improvement is a good thing overall, it
doesn’t necesarily improve racial disparities in care,” said Dr. Alexander
Green, senior faculty member at the Disparity Solution Center in the Institute
of Health Policy at Massachusetts General Hospital.“These disparities exist
much more broadly,” said Green. “Often, minority patients do feel they are
being treated unfairly for a number of different reasons. While doctors feel
they are trying to do their best, studies show they are providing a different
level of care without knowing it.”
Green said some medical professionals may believe minority patients are
improperly seeking drugs because of unconscious biases and media messages.
“It’s not a matter of intentional racism,” said medical ethicist Dr.
Mildred Solomon of Harvard Medical School. “I think most health-care
providers deeply want to help people of all races, but there are an enormous
number of barriers.”
Other factors contributing to the disparity may include cultural
differences, human variation, or miscommunication between patients and medical
professionals. Patients’ expectations of care or an underrecognition of pain
also may play a role as to why racial disparity is a problem in hosptial
emergency treatment. “There’s an interpretation and communication that
goes on between a patient and doctor,” said Solomon. “If that’s not
perfectly aligned, the physican might miss what it is that the patient is
trying to communicate, not because they are racist but because they may not be
as attuned to what the patient is saying.”
Green said more guidelines for treating conditions in the ER may curb
disparities. “Having to wait long amounts of time, being treated
disrespectfully, lack of explanations from doctors - these are anecdotes that
we hear,” he said. “Even though it’s not clear whether these are only
perceptions or reality, studies show they may be true.”
http://news.bostonherald.com/news/regional/general/view.bg?articleid=1078890&srvc=home&position=also
New Stem Cell Technique Improves Genetic
Alteration
ScienceDaily (Mar. 9, 2008) — UC
Irvine researchers have discovered a dramatically improved method for
genetically manipulating human embryonic stem cells, making it easier for
scientists to study and potentially treat thousands of disorders ranging from
Huntington’s disease to muscular dystrophy and diabetes.
http://www.sciencedaily.com/releases/2008/03/080307150657.htm
UT Southwestern researchers investigate
predictors for sickle-cell-anemia complications
DALLAS – Feb. 29, 2008 – Researchers at UT Southwestern Medical Center
have determined that the level, or saturation, of oxygen in blood could be used
to identify children with sickle cell anemia who are at an increased risk of
stroke.In a related study, they have also found that a published method used to
predict severe complications of the disease may not be adequate.
“Stroke is a serious but increasingly preventable complication of sickle
cell disease,” said Dr. Charles Quinn, assistant professor of pediatrics at UT
Southwestern and lead author of a study appearing in February’s British
Journal of Haematology. “Several factors have been identified that
increase risk for stroke, but better screening tools are still
needed.”Hemoglobin is an oxygen-transport protein in red blood cells. People
with sickle cell disease, including an estimated 100,000 Americans, have a
genetic error affecting their hemoglobin. The defect turns normally soft, round
blood cells into inflexible, sickle-shaped cells. The altered shape causes
blockages in blood vessels and prevents body tissues from receiving oxygen.
The researchers reviewed the cases of 412 children who are part of the Dallas
Newborn Cohort, the world’s largest group of patients with sickle cell disease
who were initially diagnosed by newborn screening. All patients reviewed were
born after Jan. 1, 1990, a date chosen because patient data was available
electronically.Oxygen saturation in the children’s blood was tracked over
time, and the records of those who suffered a stroke were compared to those who
did not. The children who had lower levels of oxygen in their blood were more
likely to develop stroke, the researchers found.
“A decline in oxygen saturation over time seems to further increase the
risk of stroke,” said Dr. Quinn. “Oxygen saturation is easily measured,
potentially modifiable and might be used to identify children with sickle cell
disease who are at greater risk of having a stroke.”
http://www.eurekalert.org/pub_releases/2008-02/usmc-usr022708.php
Creating a Cord-Blood Lifeline
The decision to donate a newborn's umbilical-cord blood is, for many
expectant mothers, a simple checkmark on a long list of prenatal choices. But
for Noel Beninati, one donor's checkmark offered a lifeline. Last May, Beninati
received a transplant of stem cells harvested from the blood of an infant's
discarded umbilical cord at Boston's Dana Farber Institute, to help him fight a
rare blood condition called myelodysplastic syndrome. After doctors couldn't
find a matching bone-marrow donor, the 58-year-old New Yorker says his last hope
was cord blood, a solution that would not exist without parental donors. New
parents, Beninati urges, "must understand the importance this decision can
mean for the public good."
State legislators agree. More and more have introduced or passed laws to
mandate that doctors and hospitals educate expectant parents about the
possibility of cord-blood donation. Doctors can now treat some 70 diseases using
stem cells harvested from cord blood, and states including Oklahoma, Michigan
and Arkansas are considering bills to fund the establishment of additional local
public cord-blood banks and collection centers. "Ideally, we want people to
see this as a public service akin to blood or organ donation," says
Oklahoma state senator Jay Paul Gumm, who has sponsored such legislation.
"Something that they automatically think to sign up for."
http://www.time.com/time/health/article/0,8599,1717283,00.html
Sickle Cell Disease in Nigeria
Sickle cell anemia is one ailment that is affecting a large
percentage of Nigeria’s population, and due to the high cost of treatment,
many find it difficult to manage. A non-governmental organization (NGO), Elewura
Sickle Cell Centre, based in Ibadan, the Oyo State capital and the United
Kingdom, has however come to the rescue of sickle cell patients who can’t
afford the cost of treatment.
Elewura Sickle Cell Centre is an organisation that caters
for sickle cell patients who can not afford to pay for their drugs. Aside from
assisting patients with drugs, the organization puts in place sensitization programmers
to enlighten people about the sickle cell anemia, while also providing
pre-marital counseling to intending couples.
http://www.tribune.com.ng/27022008/features.html
February 2008
New Sickle Cell Day Hospital Unit in New Orleans
http://include.nurse.com/apps/pbcs.dll/article?AID=/20080211/ED02/302120038
In post-Katrina New Orleans, a lack of primary care physicians means that it can
often take up to a month to get a doctor’s appointment. As a result, many of
the city’s sickle cell patients have been coming to the emergency rooms
seeking treatment. Kruse-Jarres said that in the EDs, few doctors and nurses
have specialized training or knowledge in the treatment of sickle cell. The new
Tulane day hospital will meet a need by offering a place where patients can get
regular care and treatment from a staff that specializes in the disease.
The day hospital has five beds and a full-time staff consisting of a nurse, a
nurse practitioner and a social worker. Open during the daytime hours to those
over the age of 18, the hospital works with patients to create a
multi-disciplinary program of care and can treat patients when the pain gets out
of control. A social worker will also work with the hospital to help patients
manage the pain and to help them secure insurance or coverage for medical bills.
“We’re not just treating pain as everyone does and letting that be the end
of the story. We’re trying to understand the pain, the different types and how
they have to be treated. The social worker will be in once a day to do
assessments on the patients. We’ve really incorporated the psychological
aspects of pain management,” said Kruse-Jarres.
She also said that the sickle cell day hospital will work in conjunction with
personnel in the emergency room to develop guidelines for seeing and admitting
sickle cell patients.
The hospital is being subsidized by a $420,000 grant from Baptist Community
Ministries that will cover the nurse practitioner and social worker for three
years. Tulane offered space and a nurse to the program. The idea for a sickle
cell day hospital was based on the sickle cell clinic at Montefiore Medical
Center in New York. The Adult Bronx Comprehensive Sickle Cell Center there has
been a national leader in treatment and research on the disease.
Every time patients go to the emergency room they see different doctors but at
the Tulane day hospital they will now be able to see the same practitioners.
Dana Sylvester, RN, who is staffing the hospital, said that she has seen the
trouble with sickle cell treatment first hand through the eyes of a good friend.
Johns Hopkins Opens Day Hospital - Center To Treat Severe Sickle Cell Pain
http://www.webwire.com/ViewPressRel.asp?aId=58097
http://www.hopkinsmedicine.org/Press_releases/2008/01_30_08.html
A new urgent care center specifically geared to treat sickle cell patients experiencing acute pain will open Feb. 5, physicians at Johns Hopkins Medicine announced. A formal opening celebration is scheduled for Feb. 18.
Johns Hopkins opened an adult sickle cell Center in 2000 to provide chronic care for patients, but the new center fills a serious treatment gap for patients with pain too severe and too sudden to wait for care. Most head for crowded emergency rooms, where there may be long delays in getting infusions of powerful narcotics to stop the pain.
Sickle cell anemia, an inherited disorder that affects mostly people of African and Hispanic heritage, is named for the crescent- or sickle-shaped blood cells caused by the disease. The C-shaped cells periodically clump inside blood vessels, blocking circulation and causing severe anemia, increased risk of infections or strokes, and episodes of extreme pain that can last hours or days. These episodes are so severe that physicians refer to them as a “sickle cell crisis.”
“Emergency departments are crowded and busy, making it difficult for patients to get the medications they need,” says Sophie Lanzkron, M.D., assistant professor of medicine and oncology and director of both the new center and ongoing adult program. “Frequent trips to request powerful narcotics also often wrongly stigmatize sickle cell patients as drug addicts who need a quick fix, so lots of patients stay home and suffer because the thought of going to the emergency room is so uncomfortable,” Lanzkron adds.
The new urgent care center, known as they Sickle Cell Infusion Center, scheduled to operate Monday through Friday 8:30 a.m. to 5 p.m., was championed and designed by both medical experts and community leaders familiar with the burdens carried by sickle cell patients.
Myron L. Weisfeldt, M.D., physician in chief and chairman of the Department of Medicine at Johns Hopkins, worked with Lanzkron and other Johns Hopkins faculty and staff to develop the center and obtain financial support. The team secured funding from Priority Partners and Amerigroup, managed care organizations that provide medical assistance to low-income individuals. Priority Partners is partially owned by Johns Hopkins HealthCare.
These insurers will pay a set fee to the urgent care center each month to enroll their members into programs that include unlimited visits. “Paying for acute treatment in advance not only helps patients, but saves money overall by reducing costly visits to emergency rooms,” Lanzkron says.
In an average month, the emergency room at The Johns Hopkins Hospital gets about 50 to 70 visits from sickle cell patients. Though the urgent care center will be open only during business hours, Lanzkron expects that it will absorb the bulk of patient visits to treat sickle cell crises.
Last week to Vote for your favorite Children's Hospital
http://www.colgate.com/app/Colgate/US/Corp/CommunityPrograms/show-the-love.cvsp
Colgate-Palmolive and Starlight Starbright
Children’s Foundation have teamed up this year to help children with Sickle
Cell Disease and their families cope with the pain, fear and isolation of this
terrible disease. By providing FUN CENTERS in hospitals, these children can
forget about their illnesses for a moment and remember how to have fun.
We asked you to “Show the Love” by voting for a
hospital to receive a Fun Center. The outpouring of support has been wonderful,
and Colgate-Palmolive is awarding all nine participating hospitals a Fun Center!
And now you can make an even bigger difference. Voting remains open through
February 29, and the hospital that receives the most support will receive an
additional Fun Center!
January 2008
Thank you for Responding
Last month, the National Heart, Lung and Blood Institute of the NIH issued a “Request for Information”
(RFI) that seeks broad input about research priorities in Sickle Cell Disease (SCD). This RFI provides a unique and important opportunity for the SCD community to advocate for basic and clinical research to improve treatments and health outcomes for those with the disease.
The attached “Joint Response from Members of the Sickle Cell Disease Community” printed below represents an effort to facilitate a strong response to this RFI by providing, in one document, a comprehensive overview of the many promising research opportunities in SCD that should be pursued during the next 5-10 years. The document was authored by the leadership of the Clinical Trials Consortium of the Comprehensive Sickle Cell Centers, the SCD Clinical Research Network, the recent SCD Workshop of American Society of Hematology, and the SCD Summit of the American Society of Pediatric Hematology Oncology - with broad input from many members of the SCD community.
JOINT response from MEMBERS OF THE Sickle cell disease community
to Defining a Research Agenda for Sickle Cell Disease and Other Hemoglobinopathies
Request for Information NOT-HL-08-108 (Receipt Date January 14, 2008)
Sickle cell disease (SCD) research has entered an exciting new era, filled with opportunity and promise. Three decades of basic and clinical research – much of it funded by the National Heart Lung and Blood Institute
(NHLBI) through the Comprehensive Sickle Cell Centers (CSCC) Program and other mechanisms – have expanded the pathophysiological model of SCD beyond polymerization of Hb S to include an in-depth understanding of the pathological behaviors of sickle cells and their protean effects on other cells and organs. SCD is now appreciated as a systemic disorder characterized by a complex vasculopathy that affects multiple organ systems. Enhanced understanding of the systems biology of SCD will continue to provide a variety of new targets for potential therapeutic intervention. Opportunities have never been greater to improve health outcomes and quality of life for the ~100,000 Americans with SCD and millions worldwide.
In 2007, NHLBI completed a strategic plan that will guide its research and training programs over the next 5-10 years (Appendix A). In recent years, several conferences and working groups have reviewed scientific advances in SCD, identified barriers to progress, considered and ranked research priorities, and made recommendations for pursuing those opportunities. Brief summaries of the 2003 NIH conference “New Directions for Sickle Cell Therapy in the Genome Era”, the 2006 NHLBI Level 1 Strategic Planning Working Group on Acquired and Inherited Blood Diseases, the 2007 American Society of Hematology Workshop on SCD, and the 2007 American Society of Pediatric Hematology/Oncology SCD Summit are attached. (Appendix B) While a range of opinions exists about the relative importance of specific scientific opportunities, these different groups have generated a remarkably consistent set of broad research priorities and recommendations that are tightly aligned with the 2007 NHLBI Strategic Plan. A synthesis of these deliberations is presented below and offered as a joint response to the current NHLBI SCD RFI (NOT-HL-08-108) from a variety of groups and individuals concerned about sickle cell disease. (Appendix C)
SCIENTIFIC PRIORITIES AND RESEARCH AGENDA
The SCD community shares great enthusiasm and a strong sense of urgency for pursuing the following opportunities to improve treatment, health outcomes, and quality of life for persons with SCD. These five interdependent and synergistic opportunities are equally important.
· To develop and expand curative therapies such as hematopoietic cell transplantation and gene therapy. Hematopoietic cell transplantation is the only curative therapy for SCD currently available, but its utilization is limited by the associated risks and the availability of suitable donors. Gene therapy also offers the promise of cure, but issues of safety, vector design, stem cell transduction, and clinical efficacy are yet to be resolved. Thus additional research is necessary to overcome biological, clinical and social barriers to these promising approaches. Basic research in immunology, stem cell biology, gene transfer,
hematopoiesis, and regulation of gene expression, as well as translational, clinical and outcomes studies, promise to broaden the application of these curative therapies to more individuals with SCD and prior to the development of irreversible organ damage
(NHLBI Strategic Plan, Challenges 1.1, 1.2). Because of the risks associated with these approaches, they will likely be reserved in the foreseeable future for patients with high morbidity and mortality risks. Thus, improved risk assessment strategies are needed, and other lower-risk therapies must be developed in parallel. (Challenges 2.2, 2.3)
· To elucidate the genetic modifiers of SCD and to integrate genetic information with biomarker, clinical and psychosocial data to improve risk assessment, to anticipate organ-specific morbidities, and to predict response to specific therapies. SCD is characterized by enormous phenotypic variability, so identification of modifier genes is clinically and scientifically crucial. To this end, robust genome-wide association studies are needed in a population well-characterized by phenotype, along with targeted genotype-phenotype correlations and physiological studies to define the mechanistic basis by which specific genes modify phenotype. Longitudinal studies will be essential to document the occurrence and progression of organ-specific complications. Risk stratification is particularly important since phenotypic diversity in SCD requires that high risk therapies be restricted to individuals with severe phenotypes and that therapies directed at the prevention of specific complications initially be tested and subsequently targeted to those at risk for those morbidities. Psychological, social, and economic factors are major determinants of health outcomes in other disorders, and their contributions to disease severity, health care access and utilization, and health outcomes in SCD should be investigated. As emphasized by the 2003 NIH SCD-Genome Conference (Appendix B), SCD is an ideal prototype for developing the clinical infrastructure and genetic,
physio-logical and statistical methodologies to pursue this endeavor in the genome era. (Challenges 1.2, 2.2, 2.3, 3.1, 3.2)
· To expand and integrate basic knowledge of hematopoiesis and gene regulation, sickle red cell
pathophysiology, vascular biology, inflammatory mechanisms, and coagulation regulation to refine the systems-biology model of SCD. An expanded, sustainable, multidisciplinary basic science research effort focused on SCD is crucial to generate novel treatment strategies for future clinical research. Increased expression of gamma globin mitigates severity of SCD, and achieving even higher levels of Hb F has the potential for far greater benefit. Better understanding of how the single amino acid substitution in Hb S leads to cellular and membrane abnormalities that trigger red cell dehydration,
hemolysis, increased adhesion, procoagulant activity, inflammation, and endothelial cell dysfunction will continue to provide new targets for therapeutic intervention (Challenge 1.1, 1.2). Greater insight into the mechanisms responsible for progressive damage to brain, kidney, lung, heart, bone, and other organs will advance prevention and treatment of organ-specific SCD complications. Furthermore, emerging genetic information will fuel basic research to delineate the molecular mechanisms responsible for phenotypic variation, both expanding our understanding of SCD and other vasculopathies and generating new therapeutic strategies to be tested in clinical trials. (Challenge 2.1)
· To develop evidence-based treatment strategies based on improved understanding of pathophysiological mechanisms, genetic modifiers, biomarkers, and environmental factors. Individual and combination therapies will be needed to prevent and better treat acute complications (e.g. pain, acute chest syndrome); to predict and preempt the development of specific organ damage and dysfunction; and to prolong and improve quality of life (Challenges 1.2, 2.1, 2.2, 2.3). A pressing need exists to compare known treatments (e.g. chronic transfusion,
hydroxyurea) and to systematically test new therapies in risk-stratified subpopulations. Unique opportunities also exist to adapt pharmacological therapies developed in other disorders that target disease mechanisms now known to contribute to SCD. For example, a variety of agents might target the inflammatory, adhesive, and/or procoagulant mechanisms at play in SCD. The development of novel strategies to treat and prevent organ damage and innovative approaches to long unsolved problems, such as pain, will require new collaborations with investigators in other disciplines. Quality of life measures and psychosocial interventions and outcomes will be important to the design of clinical trials and the subsequent applicability of the results to clinical practice. Consumer and community input will be critical to identify outcome measures most important to patients, and to ensure transparency, public awareness, and support of research efforts. (Challenges 3.1, 3.2, 3.3)
· To translate research advances into clinical practice, by developing and implementing evidence-based guidelines for medical and psychosocial SCD treatments and disseminating these therapeutic advances effectively into medical practice. This effort will depend not only on the development of new evidence-based treatments, but also on a better understanding of barriers to the delivery of appropriate care, especially for adults. Evidence that new treatments such as hydroxyurea are underutilized illustrates the significance of such barriers. Investigation of the social, cultural, and economic factors that prevent people with SCD from receiving appropriate health care is critically needed if treatments discovered in laboratories and developed in clinical trials are to benefit patients, especially those beyond the reach of academic medical centers. Collaboration with other specialists, emergency and primary care providers, and community-based organizations will facilitate effective communication of research advances and delivery of improved treatments to the public. (Challenges, 3.1, 3.3)
RECOMMMENDATIONS FOR ADVANCING THE RESEARCH AGENDA
To effectively address these scientific priorities, NIH should develop and support a Comprehensive SCD Research Program that includes four distinct but highly interactive components:
· Basic and Translational Research targeted to SCD is essential to expand knowledge of the pathophysiology of SCD, to provide the new scientific findings necessary to engender future therapies, and to attract and retain young investigators to the field. Synergistic, interactive research programs that incorporate both basic and translational studies could be encouraged through center and/or program-project initiatives and other mechanisms. Interaction between basic and clinical research efforts is crucially important to ensure smooth transition of scientific advances into clinical trials and to promote the translation of clinical research back to the laboratory. Basic and translational research programs also constitute an important resource of laboratory expertise and facilities to support a Clinical Trials Network, and should be involved in the early phases of clinical trials development. Thus, NHLBI support for basic and translational research should include mechanisms to ensure the close association of basic science investigators with clinical programs and with the SCD Clinical Trials Network. Requests For Applications
(RFAs) that target specific research opportunities should continue to be used to focus effort in areas of highest priority, to ensure the most effective and vigorous investigator-initiated effort, and to attract investigators from other disciplines.
(NHLBI Strategic Plan, Strategies 1, 2, 4, 6, 7)
· A SCD Clinical Trials Network to provide an adequate number of subjects for the timely completion of investigator-initiated collaborative clinical trials in SCD. To conduct multiple clinical studies, especially phase III trials in both children and adults, it is likely that a patient population of 20,000 or more would be required initially, given the stratification of the population by such factors as genotype (SS vs. SC, etc), age, gender, ethnic background, complications (e.g., ~10% of SCD-SS patients with stroke), concurrent therapy, geographic locale, etc. Participation of individual centers in the Network should be based on demonstrated and sustained ability to contribute subjects and high quality data to collaborative SCD trials. Some trials may require and benefit from international collaboration. Once established, the Network could complete meritorious trials previously initiated by the CSCC Clinical Trials Consortium and the SCD Clinical Research Network and would support the development, prioritization and implementation of investigator-initiated epidemiologic and phase I, II and III trials. This Network also could be an efficient vehicle for important health services, psychosocial, and outcomes research. An efficient and accountable Network infrastructure would require mechanisms to ensure appropriate prioritization and peer review of proposed protocols and scientific leadership of trials by the investigators that develop them. Collaborative support from other Institutes may be required to conduct the number of meritorious studies that will be needed during the next 5-10 years to move basic and translational observations through phase I, II and III trials and to develop evidence-based treatments. (Strategies 1, 3, 4, 5, 6, 7)
· A database of well-phenotyped patients coupled to a DNA repository is indispensable for pursuing genotype-phenotype correlations. Detailed data on carefully standardized and validated phenotypes should be collected longitudinally on a broadly-based SCD population. This database could serve as a resource to the Clinical Trials Network and permit risk stratification of study groups and genetic analysis of response to therapy. Current efforts to create such a DNA-linked database could be enhanced and expanded to realize this goal. Sustained funding dedicated to this priority will be needed and may require inter-Institute support. (Strategies 1, 2, 3, 4, 6)
· The training of new basic and clinical investigators is essential for any field, but the unique medical economics of SCD provides few resources to develop and sustain academic programs or to cultivate the careers of young investigators. The supply of SCD investigators – currently inadequate, especially in internal medicine – is likely to become even more critical in the near future. Basic and translational research programs and the Clinical Trials Network would provide ideal venues for training and career development. A variety of funding mechanisms (K01, K08, K23, Scholar Programs, and
CTSAs) and loan repayment programs could support this important need. In addition, the maintenance of a vibrant basic and clinical research program in SCD that offers the prospect of career advancement is absolutely crucial to encouraging young academicians to enter and remain in the field. (Strategy 7)
In addition to its primary mission to support scientific research and training, NHLBI has a critical interest in forming active partnerships with other federal government agencies* and with the SCD community to address three major barriers to advancing the research agenda in SCD: 1) the inadequate and poorly funded system of health care available for SCD patients, especially for adults; 2) lack of reimbursement by third party payers for “standard care” for SCD patients in clinical trials (in marked distinction to other disorders, such as cancer); and 3) absence of population-based information on the incidence, demographics, clinical spectrum, health care utilization, and outcomes of SCD. These barriers represent major health disparities that inhibit the design and implementation of clinical trials and the translation of research advances into clinical practice. NHLBI can play a key role in eliminating these barriers by partnering with other federal agencies* with the mission and potential resources to develop and implement strategies to improve access to and reimbursement for quality healthcare, including that provided through clinical
trials; to establish practice guidelines and standards of care; and to develop a population-based system of surveillance and outcomes tracking for SCD. (Strategies 3, 5, 6, 8)
*Health Resources and Services Administration (HRSA), Centers for Disease Control and Prevention (CDC), Agency for Health Research and Quality
(AHRQ), and Centers for Medicare and Medicaid Services (CMS).
APPENDIX A: 2007 NHLBI STATEGIC PLAN
GOALS AND CHALLENGES
Goal 1: To improve understanding of the molecular and physiologic basis of health and disease, and to use that understanding to develop improved approaches to disease diagnosis, treatment and prevention.
Challenge 1.1: To delineate mechanisms that relate molecular events to health and disease.
Challenge 1.2: To discover biomarkers that differentiate clinically relevant disease subtypes and that identify new molecular targets for application to prevention and diagnosis – including imaging, and therapy.
Goal 2: To improve understanding of the clinical mechanisms of disease and thereby enable better prevention, diagnosis and treatment.
Challenge 2.1: To accelerate the transition of basic research findings into clinical studies and trials and to promote the translation of clinical research findings back to the laboratory.
Challenge 2.2: To enable the early and accurate risk stratification and diagnosis of cardiovascular, lung, and blood disorders.
Challenge 2.3: To develop personalized preventive and therapeutic regimens for cardiovascular, lung, and blood disorders.
Goal 3: To generate an improved understanding of the processes involved in translating research into practice and use that understanding to enable improvements in public health and to stimulate further scientific discovery.
Challenge 3.1: To complement bench discoveries and clinical trial results with focused behavioral and social science research.
Challenge 3.2: To identify cost-effective approaches for prevention, diagnosis, and treatment.
Challenge 3.3: To promote the development and implementation of evidence-based guidelines in partnership with individuals, professional and patient communities, and health care systems and to communicate research advances effectively to the public.
STRATEGIES TO ADDRESS GOALS AND CHALLENGES
Strategy 1: Develop and facilitate access to scientific research resources.
Strategy 2: Develop new technologies, tools, and resources.
Strategy 3: Increase the return from NHLBI population-based and outcomes research.
Strategy 4: Establish and expand collaborative resources for clinical research.
Strategy 5: Extend the infrastructure for clinical research.
Strategy 6: Support the development of multidisciplinary teams.
Strategy 7: Develop and retain human capital.
Strategy 8: Bridge the gap between research and practice through knowledge networks.
APPENDIX B: CONSENSUS DEVELOPMENT ON SCD RESEARCH PRIORITIES, 2003 - 2007
In November, 2003, NIH hosted the conference “New Directions for Sickle Cell Therapy in the Genome Era” attended by 120 invited experts from the US and abroad. Specific research priorities identified included:
· Establish a “Multidisciplinary SCD Research Network with a central prospective registry of
well-phenotyped patients.”
· Increase in the number of basic, clinical, and social science researchers doing research on sickle cell disease.
· Studies of genetic markers, genotype/phenotype correlation and chemical genomics.
· Standardization of phenotype definitions.
In May, 2006, the NHLBI Level 1 Strategic Planning Working Group on Acquired and Inherited Blood Diseases identified six priorities that apply to sickle cell disease and other hemoglobin disorders:
· Training new investigators in non-malignant hematology.
· An expanded, coordinated and stable clinical trials system for blood diseases.
· Exploration of the source of human variation (genetic modifiers) in single gene disorders using SCD or thalassemia as models.
· Studying the interfaces between different biological systems by examining the interactions of
hematopoiesis, vascular biology, immunology, inflammatory states and iron metabolism.
· Understanding how genes interact with each other and are activated or silenced.
· Expansion of basic research in gene therapy, stem cell biology and transplantation, and small molecules.
In May 2007, the American Society of Hematology convened a Workshop on Sickle Cell Disease to assess the current state of research. Five research priorities were identified:
· Improve existing treatments, such as hydroxyurea and transfusion, and develop new therapies such as more effective reactivation of fetal hemoglobin, expanded use of stem cell transplantation, gene therapy, and modula-tion of other pathophysiological processes including adhesion, inflammation, coagulation, and platelet activation.
· Use of genomic, phenotypic, biomarker, and clinical data to define risk strata for SCD complications.
· Improve pain management and quality of life.
· Better characterize the mechanisms and natural history of organ damage (renal, brain, lung, and heart) and develop new approaches to prevention, treatment and identification of those at highest risk.
· Expand international research, with studies of natural history of SCD, hydroxyurea use and other approaches in Africa; evaluation of traditional remedies; and increased collaboration with Western European SCD investigators.
Recommendations included:
· Development of a new infrastructure for translational and clinical research and continued and expanded support for basic science research.
· Development of a single Cooperative Clinical Trials Group to conduct clinical research in SCD.
· Increased collaboration by NIH with other federal agencies to improve the organization and funding of clinical care for people with SCD.
In June, 2007, the American Society of Pediatric Hematology/Oncology convened a Sickle Cell Disease Summit at which a diverse group of 65 healthcare providers, investigators, and representatives of federal agencies, professional and community-based organizations and members of the affected community met to review the current status of, and possible actions to address, the disparity between SCD and other disorders in terms of advocacy, healthcare, and research support. The Summit identified opportunities and actions to improve access to care, to develop population-based surveillance to measure outcomes, and to enhance the role of the community in advancing a broad SCD agenda. Specific recommendations for basic, translational, and health services research included:
· To encourage NHLBI to lead the coordination of research among various NIH Institutes and to solicit cooperation from other federal agencies to address a broader SCD agenda.
· To strengthen and facilitate basic science research in SCD.
· To establish a single broadly representative, efficient and cost-effective SCD clinical research network.
· To develop, disseminate and facilitate implementation of evidence-based best practices, including standardized transfusion practices.
· To engage the affected community and community-based organization in the development and completion of research.
APPENDIX C: ENDORSEMENTS
-Sickle Cell Disease Association of America
· American Academy of Pediatrics
· American Society of Pediatric Hematology/Oncology
· NHLBI Sickle Cell Disease Advisory Committee
· International Association of Sickle Cell Nurses and Physician Assistants
· Steering Committee of the Comprehensive Sickle Cell Centers
· Steering Committee of the Sickle Cell Disease Clinical Research Network
· Steering Committee of the Pediatric Hydroxyurea Phase III Clinical Trial (Baby HUG)
In addition, the American Society of Hematology has noted that the recommendations of the Joint Response are consistent with those of the ASH Workshop on Sickle Cell Disease, a copy of which has been submitted in response to the
RFI.
We hope that this Joint Response, along with the many other perspectives you have received, will be helpful as you consider new approaches to supporting a research agenda focused on the improvement of health outcomes and quality of life for those affected by SCD.
Sincerely,
Clint Joiner and Peter Lane
Pain Common With Sickle Cell Disease
Jan. 14, 2008 -- Pain is "the rule rather than exception" among
adults with sickle cell disease, researchers report. Sickle cell disease is an
inherited condition in which certain red blood cells become crescent-shaped (sickled).
That makes it hard for those cells to pass through narrow blood vessels, which
deprives tissue of oxygen and causes pain.
Experts at the University of Virginia and Virginia Commonwealth University
studied 232 people age 16 and older (average age: 32) with sickle cell
disease.For six months, the patients kept daily diaries about their sickle cell
pain. Those diaries show that:
- 29% of the patients reported sickle cell pain nearly every day.
- 54% reported pain on more than half of the days.
- Only 14% rarely reported pain.
- Average pain intensity was in the middle of the study's pain scale.
The patients often didn't go see a doctor about their sickle cell pain,
handling it at home instead."Our results are both surprising and
striking," write Virginia Commonwealth University's Wally Smith, MD, and
colleagues. "Pain in adults with sickle cell disease is far more prevalent
and severe than previous studies have portrayed, and it is mostly managed at
home."Smith's team concludes that sickle cell disease should be recognized
as a source of chronic pain. The study appears in the Annals of Internal
Medicine.
Smith, W. Annals of Internal Medicine, Jan. 15,
2008; vol 148: pp 94-101.
http://www.voanews.com/english/Science/2008-01-18-voa48.cfm
http://www.abcnews.go.com/Health/PainManagement/story?id=4151169&page=1
Sickle Cell Disease in Camaroon
Sickle cell disease (SCD) research is still a dream especially for those who are powerless in terms of making it a public health priority. In a country of about 18 Million individuals and 25 to 30% of heterozygous, it’s calculated that some 4.000 babies with SS disease might come to life each year in Cameroon (Central Africa) .Healthcare facilities still lack basic tools and competent personnel to tackling the suffering of thousands of survivors who are endangered by precarious and risky blood transfusion setting where and when they exist. Most of the individuals with the disease do not attend any hospital or healthcare facility; they have to PAY and sometimes BRIBE to receive any attention. Poverty and impoverishment of families due to the cost of medical attention and drugs that are not covered by any sort of public or private assistance, increases the burden of the suffering and total morbidity/mortality.
This makes it extremely difficult to:
Sensitize public opinion (conferences, media interventions)
Organize health education
Advocate for premarital screenings and counseling
Set research plans and projects that can be funded (no official data is available on the gene)
Carry out outdoor activities in remote areas
Screen newborns and start early prophylaxis
Assure a good follow-up and control of complications…
There is no Comprehensive Sickle Cell Center (CSCC) and the promotion of quality of life for our patients can benefit from no facilities. Ignorance is still an additional cause of poor health and precocious onset of complications in our patients.
This type of situations can be managed within a well organized, financed and specialized sickle cell clinic.
There are still millions of persons with the disease throughout the world and every year, hundred thousands of newborns with the disease, come to life. In addition to preventing the spread of the gene which is vital and priority, research shall also look at molecules protecting from malaria and anemia, which appear to be some major causes with VOC, of admissions and deaths. Research priorities in Sickle Cell Disease (SCD) in our context could be traduced in terms of provision of basic treatments, training for dedicated personnel, and promotion of epidemiologic and clinical research to enable prevention, sensitization, and communication to eradicate the gene. Empowerment of communities shall be also considered.
I am a health care provider (Clinical Psychologist, PhD); researcher (bio-psycho-social determinants of morbidity and mortality in SCD focusing on depression as a clinical revelator); also advocate as I perform at least
6 conferences every year since 2006 in Douala on this subject matter; I also appear along with the sickle cell patients association, on radio or TV programs whenever the opportunity is offered to us.
I belong to an informal scd team at Laquintinie Hospital in Douala ( Douala has·3 Millions inhabitants and is the most populous town in Cameroon ). Our team is made of a Pediatrician, a generalist and I (Psychopathologist and Clinical Psychologist) who try benevolently to offer a clinical attention to hundreds of patients and parents, who would have otherwise, no particular place to go with their problems.
I was granted an observership in 2004 at the University of Miami School of Medicine, Division of Pediatric Hematology/Oncology attended their sickle cell clinics and experienced their sickle cell center. I then had a valuable understanding of the concept of a Comprehensive sickle cell center and dream of having at least one in Cameroon. My research on SCD and my PhD dissertation can show that a huge amount a suffering in scd patients are peripheral to the condition itself and can be reduced or suppressed with the type of commitment that is shown in the past programs and the present
RFI.
Dr Erero F. Njiengwé
Clinical Psychopathologist
Senior Lecturer - University of Douala
CAMEROON njiengwe@YAHOO.COM
Racial gap in ER opioid use still
persists
US hospitals are more likely to give painkillers to white patients than other ethnic groups despite studies in the 1990s that highlighted the problem, according to a study
During 1993-2005, there was a steady increase in the use of opioid painkillers to help emergency room patients complaining of pain, according to the study of nearly 375,000 hospital visits by a team of researchers led by Mark Pletcher of the University of California-San Francisco.
At the beginning of the period, only 23 percent of all patients visiting the hospital for pain were given opioids, said the study published by the Journal of the American Medical Association.At the end of the period, 37 percent were medicated with
opioids.However, there was a consistent difference between how often whites received the painkillers and how often African-Americans and Hispanics received them.
On average during the 13 years, 31 percent of whites were given opioids, while only 24 percent of Hispanics and 23 percent of blacks got them. For Asians and others, the rate was 28 percent.
And despite the overall rise in administering opioids over the period, the racial gap remained consistent at the end: in 2005, opioid prescription rates were 40 percent for whites, and 32 percent for all other ethnic groups.
For example, a white person going to a hospital emergency room in Los Angeles with a major arm or leg bone fracture was twice as likely to receive an opioid painkiller as a Hispanic with the same injury, the study said.While the study pointed out that the problem remains despite 1990s studies that showed the same phenomenon and the 1995 issuance of improvement guidelines for the treatment of acute and cancer pain, it could not fully explain the treatment discrepancy.
"Causes of disparities in medical care ... are complex, and simple racial/ethnic bias is unlikely to fully explain the problem," the study said.
http://www.sciam.com/article.cfm?id=racial-gap-in-er-opioid-u
Model Policy for the Use of Controlled
Substances
for the Treatment of Pain Federation of State
Medical Boards of the United States, Inc. Available
at http://www.fsmb.org/pdf/2004_grpol_Controlled_Substances.pdf
Rising teen star with sickle cell disease-
Dexter Darden plays the role of a tormented computer geek who gets the last
laugh in the original Disney Channel movie "Minutemen" airing at 8
tonight.
His movie debut is proof that the 16-year-old boy isn't letting a potentially
life-threatening disease or even a well-intentioned mother derail his longtime
dream of becoming a movie star. And the Disney Channel movie is a convincing
start for Darden, who has sickle cell anemia, an inherited blood disorder that
causes chronic pain by clogging blood vessels, which is damaging to tissues and
vital organs.
"I'm actually really excited," said Darden, who lives in the
township's Sicklerville section. "I'm psyched. I can't wait till it comes
out." Pat Darden wants her son to be a lawyer or doctor, but she's proud of
his successes. "I had a lot of faith in him. He's motivated. He always
wanted to do something in the arts. He sings. He dances. He acts. And I was
hopeful some doors would open for him and they did," she said.
Darden admits that he can see himself working as a pediatrician some day
because of his empathy for sick children. But for now, he's capitalizing on his
artistic talent and acting is at the forefront. Darden auditioned for the role
in New York City last summer. He wore his tube socks high, taped-up glasses,
old-fashioned basketball shorts and Converse in an attempt to appear
"over-the-top" geeky. The next day he was offered a role as Chester,
king of The Geek Squad. The movie was shot in Salt Lake City.
Darden will be watching the movie today at a private location in Margate. His
manager, Sabina Kolfa, has arranged a private dinner for him and his family,
friends and other talent agents. http://www.courierpostonline.com/apps/pbcs.dll/article?AID=/20080125/NEWS01/801250376/1006/NEWS01
December 2007
Request for
Information (RFI): Defining a Research Agenda for Sickle Cell Disease and Other
Hemoglobinopathies
This request for information (RFI) seeks comments on the current and evolving
scientific opportunities for investment in research that will lead to improved
understanding of sickle cell disease (SCD) and other hemoglobinopathies and
enable improved methods of treatment for the major clinical problems of those
affected with the diseases.
Background - The National Heart, Lung, and Blood
Institute (NHLBI) at the National Institutes of Health (NIH) has recently
completed a Strategic Plan that will guide the Institute’s research
investments in the areas of heart, lung, and blood diseases. The Institute
is now examining how it will address the goals defined in the Strategic Plan
across its broad research portfolio.
The mission of the NIH is to conduct and support research and research training.
The NHLBI is uniquely positioned to catalyze changes that transform new
scientific knowledge into measures that can improve the public health, and to
communicate advances in knowledge to the individuals and institutions directly
engaged in disease prevention and healthcare delivery. Research in the
field of SCD is supported by multiple Institutes at the NIH. The NHLBI
supports basic and clinical research in SCD and other hemoglobinopathies.
Over the past decade, several therapies (e.g., hydroxyurea, chronic transfusion,
and hematopoietic stem cell transplantation) have been developed that are known
to be effective in mitigating various complications of SCD. Many of them
have implications for other hemoglobinopathies as well. Earlier studies
supported by the NHLBI demonstrated the efficacy of prophylactic antibiotics for
prevention of early death in affected children. The results of those
studies led to widespread neonatal screening and greatly increased lifespans for
people born with SCD. We now seek input from the scientific community in
the major scientific opportunities in basic and clinical research for SCD, which
we aligned with the NHLBI Strategic Plan (http://apps.nhlbi.nih.gov/strategicplan/).
Information Requested - Please respond by
identifying what you consider to be the major scientific opportunities for
advancing understanding of SCD and other hemoglobinopathies, and providing
suggested approaches to best exploit them.
This RFI is for planning purposes only and should not be construed as a
solicitation for applications or as an obligation on the part of the Government
to provide support for any ideas identified in response to it. Please note
that the United States Government will not pay for the preparation of any
information submitted or for its use of that information. Responses will be
compiled and shared internally and with the National Heart, Lung, and Blood
Advisory Council, with one or more subcommittees of the Council, and with
scientific working groups convened by the NHLBI, as appropriate. In all
cases where responses are shared, the names of the respondents will be withheld.
We look forward to your input and hope that you will share this document with
your colleagues. Thank you very much for your help.
Responses- To respond, please link to the
online form at: http://www.nhlbi.nih.gov/funding/inits/sickle-cell-rfi.htm
Or send a letter, fax, or email to:
Request for Information: Defining a Research Agenda for Sickle Cell Disease and
Other Hemoglobinopathies
National Heart, Lung, and Blood Institute
Building 31, Room 5A48
9000 Rockville Pike
Bethesda, MD 20892- 2486
Fax: (301) 402-1124
Email: NHLBI_SickleCell@mail.nih.gov
On your response please provide the following (and include the Notice number
HL-08-108 in the subject line):
- Describe the scientific opportunities that are likely to have the greatest
effect upon the understanding of the biology of SCD and other
hemoglobinopathies in the next 5 to 10 years. In particular, please
identify the most important basic biologic questions that must be resolved
to enable development of new diagnostic and therapeutic targets.
- Describe the most important scientific opportunities for clinical research
on SCD and other hemoglobinopathies.
- Identify your relationship to research on SCD and other hemoglobinopathies
(i.e., are you a patient, a family member or close friend of a patient, a
member of an advocacy or community group, a basic researcher, a clinical
researcher, a health-care provider?).
Inquiries
Susan B. Shurin, M.D.
Deputy Director
National Heart, Lung, and Blood Institute
Building 31, Room 5A48
9000 Rockville Pike
Bethesda, MD 20892- 2486
Telephone: (301) 496-1078
Fax: (301) 402-0818
Email: Shurinsb@nhlbi.nih.gov
From: http://grants.nih.gov/grants/guide/notice-files/NOT-HL-08-108.html
The U.S. Senate passed S. 1858, the
Dodd-Hatch "Newborn Screening Saves Lives Act."
This bill includes provisions that, for
the first time, require annual funding for CDC's newborn screening quality
assurance program and that direct the Secretary of HHS to produce a contingency
plan for newborn screening operations -- both of which were recommended by
APHL. APHL is deeply appreciative of the work of Senators Christopher Dodd
(D-CT) and Orrin Hatch (R-UT)in advancing this important legislation, and we
look forward to working closely with Congresswoman Lucille Roybal-Allard (D-CA)
and Congressman Mike Simpson (R-ID) as they move their companion legislation,
H.R. 1634, through the House of Representatives.
Senators Chris Dodd (D-CT) and Orrin Hatch (R-UT)
applauded unanimous Senate passage of their legislation that will educate
parents and health care providers about newborn health screening, improve
follow-up care for infants with an illness detected through newborn screening,
and help states expand and improve their newborn screening programs.
“Investing in the health of our children is an
investment in the future of our country. Today, I am proud to say the
Senate passed legislation to protect the health of our most vulnerable citizens
– infants - by passing the Newborn Screening Saves Lives Act,” said Dodd.
“Incredible advances in medical technology have equipped us to better screen
and treat infants for congenital, genetic and metabolic disorders that, if left
untreated, could lead to severe disability or death. However, while some
newborn screening occurs in every state, fewer than half, including Connecticut,
actually test for the full recommended panel of 29 disorders. The bill
that passed today will provide resources for states to expand their newborn
screening programs. I thank my colleague Senator Hatch for joining
me in sponsoring this initiative, and I thank the rest of my colleagues in the
Senate for passing a measure that will help ensure that every newborn
child has the best possible opportunity to live a long, healthy and happy
life.”
“States will greatly benefit from federal guidance and
incentives to improve their newborn screening programs, and this bill authorizes
a modest amount of funding to help states expand and improve their programs,
provide much needed educational materials to families and improve follow-up care
and treatment of newborns that screen positive for a treatable condition,”
Hatch said. “It also helps to ensure the quality of laboratories involved in
newborn screening, so that tests are as accurate as possible and infants receive
appropriate care; and calls for a national contingency plan for newborn
screening for use in the event of a public health emergency. I greatly
appreciate my friend from Connecticut, Senator Dodd, for his leadership in
helping children.”
An estimated 4,000 babies are identified and treated
each year for conditions that could threaten their lives or health, often
preventing death and long-term disability. Unfortunately, parents are often
unaware that while nearly all babies born in the U.S. undergo some newborn
screening, the number and quality of tests vary from state to state. As a
result, a child with a given disorder will most likely receive successful
diagnosis and treatment if born in a state that tests for that disorder, but may
suffer irreversible injury or death if born in another state that does not
require such testing. Dodd and Hatch’s bill will provide grants and
incentives to states to help implement screening of the full panel of
disorders recommended by the Advisory Committee on Heritable Disorders in
Newborns and Children.
Senator Dodd has introduced this legislation in each
Congress beginning in 2002, and convened a hearing on the bill in June
2002 before the Senate’s Subcommittee on Children and Families. Senator
Hatch joined him as the lead cosponsor this year. “The Newborn
Screening Saves Lives Act” is endorsed by the March of Dimes and the
Association of Public Health Laboratories, among other organizations. To see the
Bill http://frwebgate.access.gpo.gov/cgi-bin/getdoc.cgi?dbname=110_cong_bills&docid=f:s1858es.txt.pdf
UAB Researchers Say New Stem Cell
Technique Cures Sickle Cell in Mice
Researchers at UAB (University of Alabama at Birmingham), along with a team
from the Whitehead Institute, report successfully treating sickle cell anemia in
mouse models using induced pluripotent stem (iPS) cells, a new stem cell
technique that uses skin cells and does not require embryos. The findings,
published in Science Express Online on Dec. 6, are the first to actually use the
iPS technique to treat disease in an animal model.
The iPS technique received widespread attention in November when two
laboratories reported using the process to turn human skin cells into stem
cells, cells which can then be induced to form any other type of cell.
Scientists believe stem cells have great potential in treating a variety of
human diseases.
“The UAB/Whitehead teams took skin cells from mouse models genetically
engineered to have sickle cell disease and reprogrammed them into iPS cells by
adding four genes to each cell,” said Tim M. Townes, Ph.D., professor and
chair of the Department of Biochemistry and Molecular Genetics at UAB and
co-senior author of the study. “The new genes remodeled the chromosomes that
instruct a skin cell to be a skin cell, so that the cells revert to stem
cells.”
The researchers then used a DNA fragment engineered by Townes’ laboratory
in 2006 to correct the basic sickle mutation in the cells. The corrected iPS
cells were then induced to become blood stem cells (capable of making any type
of blood cell) and were transplanted back into the diseased mice.
“The new blood stem cells began to function properly, making normal red
blood cells that did not sickle,” Townes said. “The animals showed no
symptoms of the disease and did not reject the transplanted cells.”
Previous work with iPS cells showed simply that the process worked and skin
cells could be transformed into stem cells. Townes and colleague Rudolf Jaenisch,
Ph.D., with the Whitehead Institute and a professor of biology at MIT and
co-senior author of the study, say this “proof of principle” is the first
example of creating iPS cells derived from a disease model and using these cells
to correct a genetic mutation and treat a disease.
“These findings are a major step forward in developing a cure for sickle
cell anemia,” Townes said. “We anticipate that this therapy will work in
humans as it works in mice. And it cured sickle cell in mice.”
There are obstacles to be overcome. The added genes that transform regular
cells into iPS cells are delivered by retroviruses and there are inherent risks
in the use of retroviruses. The process also uses a cancer gene to stimulate
cell division – sort of like a starter for sourdough bread. That gene has to
be regulated, so it does not stimulate uncontrolled cell division, potentially
causing a risk for cancer. Townes says researchers are already at work in
resolving these issues, although it may be years before iPS is a viable approach
to treat disease in humans.
This research was funded by the National Heart, Lung and Blood Institute, one
of the National Institutes of Health (NIH). http://main.uab.edu/show.asp?durki=115591
http://www.phgfoundation.org/news/3935/
Hanna J, Wernig M, Markoulaki S, Sun CW, Meissner A, Cassady JP, Beard C, Brambrink T, Wu LC, Townes TM, Jaenisch R. Treatment of Sickle Cell Anemia Mouse Model with iPS Cells Generated from Autologous Skin.
Science. 2007 Dec 6; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=18063756&ordinalpos=10&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum
Children with Sickle Cell Disease and Silent Strokes Show
Some Relief with Blood Transfusion Therapy
A group of children who have sickle cell disease and who experience silent
strokes showed some relief from the silent strokes with blood transfusion
therapy, researchers at Washington University School of Medicine in St. Louis
have found. The study's results will appear in a future issue of Pediatric
Blood and Cancer but are available for review in its advance online
publication.
In a Phase II study of 10 children with sickle cell disease who also had
multiple silent strokes, or cerebral infarcts, the majority of families were
committed to having their children receive blood transfusions for two years,
showing that the therapy was feasible. In addition, the blood transfusion
therapy helped to shrink the lesions on the brain caused by the infarcts and
eliminated one lesion completely, said Allison A. King, M.D., a pediatric
hematologist at St. Louis Children's Hospital and a researcher at Washington
University School of Medicine. Lesions are small areas of damaged tissue thought
to be due to blockage of small arteries in the brain.
Silent strokes are strokes that don't show the classic symptoms of overt
strokes, such as numbness, tingling, headache or slurred speech. Blood
transfusion therapy has been shown to be effective in preventing overt strokes
in patients with sickle cell disease, but its effectiveness and the willingness
of families to participate in long-term treatment to prevent silent strokes had
not been tested.
Sickle cell disease is an inherited blood disorder affecting red blood cells
that contain hemoglobin, a substance that carries oxygen from the air in the
lungs to all parts of the body. In patients with this disease, red blood cells
contain an abnormal type of hemoglobin that causes the normally round, flexible
red blood cells to become sickle- or crescent-shaped. The sickle cells can't
pass through tiny blood vessels, preventing blood from reaching the body's
tissues, which can result in tissue and organ damage, pain and stroke.
Sickle cell disease affects about 70,000 people in the United States. It
occurs in about 1 of every 500 African-American births and 1 of every 1,000 to
1,400 Hispanic-American births. While there is no cure for the disease, blood
transfusions and bone marrow transplants have been shown to be effective
treatments by replacing short-lived sickle cells with longer-lived healthy red
blood cells, although bone marrow transplants have a 10 percent mortality rate
because of the possibility of rejecting the bone marrow, complications such as
seizures and a high risk of infection.
In the study, brain lesions in six patients shrank after two years of regular
blood transfusions, and no new silent strokes occurred. One patient had a lesion
disappear, however, that patient did not continue with further blood
transfusions, and the lesion returned at more than three times its original
size, suggesting the need for prolonged transfusions. A lesion grew larger in
the seventh patient.
Many of the lesions occur in the frontal lobe of the brain, which controls
the cognitive function or problem-solving area, or in the occipital lobe, which
controls the visual processing center, King said. Neuroradiologists can locate
the lesions using magnetic resonance imaging (MRI).
"Because these lesions are usually in the frontal lobe, it is important
to do cognitive testing on these children to determine any impairment,"
King said. "We hope that by preventing further lesions through blood
transfusions that we can preserve their ability to think and learn."
A total of 71 percent of the school-aged children in the study were receiving
special education services and 57 percent had failed a grade in school. Previous
School of Medicine research shows that 80 percent of students with silent
strokes perform poorly in school.
King said the results of the trial were encouraging to health-care
professionals treating children with sickle cell disease.
"What we found in this trial is that families and children with sickle
cell disease and who experience silent strokes are willing to commit to blood
transfusion therapy for this condition," King said. "If these children
are left untreated, their risk for an overt stroke is very high, but if we use
blood transfusion therapy, they may have a lower risk for overt stroke and no
evidence of new silent infarcts on an MRI."
Results of this Phase II trial spearheaded a larger, Phase III study that is
evaluating 1,800 children in the United States, Canada and Europe. That trial,
called the Silent Cerebral Infarct Multi-Center Clinical Trial, is headed by
Michael R. DeBaun, M.D., professor of pediatrics at the School of Medicine.
Through it, researchers will further determine the effectiveness of blood
transfusion therapy to prevent silent strokes in children with sickle cell
disease and to prevent further cerebral injury. http://www.newswise.com/articles/view/536080/
IMPACTS Trial Uderway
Anthera Pharmaceuticals, Inc., a privately held
biopharmaceutical company developing anti-inflammatory drugs, announced today
that the U.S. Food and Drug Administration (FDA) Office of Orphan Product
Development has granted A-001 orphan drug status for the prevention of acute
chest syndrome in patients with sickle cell disease. A-001 is currently being
evaluated for acute chest syndrome in a Phase II clinical trial in the United
States called IMPACTS (Investigation of the Modulation of Phospholipase in Acute
ChesT Syndrome).
In addition to orphan drug designation, the FDA has granted
Anthera expanded enrollment of the IMPACTS trial to patients as young as five
years of age. "The orphan drug designation signifies an important milestone
for Anthera in the development of A-001," stated James E. Pennington, M.D.,
Executive Vice President and Chief Medical Officer at Anthera Pharmaceuticals,
Inc. "Orphan drug designation, in addition to our recent fast track
designation from the FDA, further strengthens our development program and allows
us to accelerate our efforts to develop a new treatment for this devastating
condition, for which there is no cure." About Acute Chest Syndrome Acute
Chest Syndrome (ACS) primarily affects children suffering from sickle cell
disease. It is believed that the incidence of sickle cell disease is highest in
children two to four years of age decreasing gradually to its lowest value in
adults. Patients five to eleven are also a large part of the population who
could benefit from a new therapy. ACS is also believed to be a contributor to
pulmonary function abnormalities, pulmonary hypertension, and long-term
mortality.
About the IMPACTS trial The IMPACTS trial began recruiting
patients in January 2007 and is a double-blind, randomized, parallel group,
placebo-controlled dose escalation study aimed at preventing a severe
respiratory complication of sickle cell disease, acute chest syndrome. Acute
chest syndrome is a form of acute lung injury and is the leading cause of death
in sickle cell disease patients. It commonly follows admission to the hospital
for other reasons, especially an episode of bone pain (a prominent feature of
sickle cell disease). Recent academic clinical studies have demonstrated that
serum secretory phospholipase A2 (sPLA2) levels rise in advance of acute chest
syndrome, and therefore help identify patients at-risk. This creates a unique
opportunity for early intervention for a serious inflammatory lung disease with
a potent inhibitor of sPLA2 such as A-001. Worldwide, nearly 200,000 suffer from
some form of sickle cell disease. It accounts for an estimated 60,000
hospitalizations per year and significantly reduces life expectancy.
"Current treatment options are limited for even the common complications of
sickle cell disease. As such, discovery of sPLA2 as a potential therapeutic
target for patients at risk for acute chest syndrome has opened new prevention
and treatment opportunities," says Clark Brown, M.D., Ph.D., IMPACTS
investigator at Emory University, and a physician at the Aflac Cancer Center and
Blood Disorders Service of Children's Healthcare of Atlanta. "The IMPACTS
study represents a promising step forward in the care of patients with sickle
cell disease." Further information about this clinical trial, sickle cell
disease, and acute chest syndrome can be found at http://www.IMPACTStrial.com
Reports from 2007 ASH meeting:
ATLANTA, Dec. 8 /PRNewswire-USNewswire/ -- New research to be presented at
the 49th Annual Meeting of the American Society of Hematology in Atlanta, GA,
will provide important insight into the treatment and management of sickle cell
disease and thalassemia, both disorders of the red blood cells. Specifically,
data will be presented on advancements in iron chelation therapy, treatments
necessary for patients who require multiple blood transfusions because of the
risk of excess iron. Researchers will also unveil new findings about brain
damage in sickle cell patients, a complication of the disorder that can occur as
patients age. Additionally, retrospective and prospective trials among Florida
Medicaid populations and patients in Nigeria, an area with the highest global
burden of sickle cell disease, will show the need for physician education to
address the underutilization of hydroxyurea, which is an efficacious treatment
associated with a significant reduction in sickle cell complications,
hospitalizations, and transfusion requirements by about 50 percent and in
mortality by 40 percent. A press conference revealing this new research will
take place Saturday, December 8, from 1:30 p.m. to 2:30 p.m.
"Sickle cell disease, once considered a fatal pediatric condition, is
now a chronic adult illness. As physicians, we need to better understand how to
treat sickle cell patients from childhood through their adult life," said
press conference moderator Marilyn Telen, MD, Division Chief of Hematology, Duke
University, Durham, NC. "Further, by understanding how to effectively
mitigate the consequences of multiple transfusions, particularly iron overload,
we can better serve a broad range of patients who suffer from red blood cell
disorders."
-- Hydroxyurea, a highly efficacious treatment for sickle cell patients, is
underutilized in a Florida Medicaid population [Abstract #79]
Richard Lottenberg, MD, Division of Hematology/Oncology, University of
Florida College of Medicine, Gainesville, FL
This retrospective cohort study aimed to determine adoption and utilization
of hydroxyurea therapy in sickle cell disease among 2,301 Florida
Medicaid-eligible patients over 16 years of age. It found that the prevalence of
hydroxyurea use in this Medicaid population is low. Hydroxyurea adoption was
determined by the presence of at least one hydroxyurea pharmacy claim and about
17 percent of the patients had at least one pharmacy claim for hydroxyurea.
Hydroxyurea users compared to non-hydroxyurea users were more likely to be
males, older than 25, with a history of using slow-release opioid medications,
or receiving red cell transfusions. A substantial number of patients that met
FDA-approved criteria for hydroxyurea did not receive it. The study also found
that early therapy drop-out and low adherence rates were common in patients
prescribed hydroxyurea. These findings highlight the need to develop programs to
enhance physician adoption and prescribing of hydroxyurea, as well as
educational materials to increase patient adherence.
-- First-ever evaluation of hydroxyurea use in Nigerian population shows
absolute lack of use by physicians in area with highest incidence of sickle cell
disease worldwide [Abstract #80]
Zakari Aliyu, MD, MPH, Center for Sickle Cell Disease, Howard University,
Washington, DC
This prospective trial included interviews with 206 adult and pediatric
sickle cell patients and 10 hematologists, and reviewed data from more than
1,000 patients, all based in Nigeria, about hydroxyurea utilization. The study
found that 100 percent of the Nigerian hematologists surveyed reported
discomfort with instituting hydroxyurea as a treatment option for sickle cell
disease patients. Barriers to hydroxyurea utilization identified by physicians
included safety and toxicity profile (100 percent), patient compliance (100
percent), effective follow-up (100 percent), drug availability (100 percent),
affordability (100 percent), and concern for reactivation of latent tuberculosis
(50 percent), carcinogenesis (100 percent), and teratogenicity (associated with
birth defects) (100 percent).
No patient was currently on hydroxyurea treatment and only 5 percent of the
patients interviewed had been informed of or were aware of hydroxyurea.
Patient-related barriers to hydroxyurea included lack of awareness (95 percent),
cost (100 percent), availability (100 percent), need for frequent follow-up (90
percent), risk of infections (98 percent), and pregnancy restrictions and need
for concurrent contraceptive use (98 percent).
The authors concluded that the absolute lack of hydroxyurea utilization in a
major health-care center in Nigeria, the country with the highest incidence of
sickle cell disease in the world with about 150,000 children born with the
disease annually, underscores the need for education of local health-care
providers as well as patient counseling and education. In addition, clinical
studies designed to assess the safety and efficacy of hydroxyurea in unique
African settings is needed to facilitate the introduction and utilization of
hydroxyurea in Nigeria and other parts of Africa.
-- Cognitive function impaired among sickle cell patients; transfusion trial
needed to assess how to mitigate brain damage, especially as patients age
[Abstract #428]
Elliott Vichinsky, MD, Children's Hospital and Research Center, Oakland, CA
Many consider brain dysfunction to be the most important and least-studied
problem afflicting the aging sickle cell population. About 25 percent of
neurologically intact sickle cell pediatric patients have neuropsychological
dysfunction -- a deficit in cognitive ability -- and silent central nervous
system (CNS) infarction -- death of tissue within the CNS system, including the
brain and spinal cord. In children, age is associated with a decline in
neuropsychological dysfunction, suggesting adults are at risk for progressive
brain injury.
This trial evaluated 138 adults with sickle cell anemia and 37 control
subjects with a series of cognitive tests that assessed verbal and nonverbal
intelligence, academic achievement, executive functioning, processing speed,
attention, and memory. Tests included the Wechsler Adult Intelligence Scale, the
Wechsler Memory Scale, the Woodcock-Johnson Tests of Achievement, the Test of
Everyday Attention, and others. MRI scans were also evaluated in 82 patients to
evaluate brain atrophy and lesions.
The study found that neuropsychological dysfunction and/or undetected brain
injury affect the majority of neurologically intact adults with sickle cell
anemia, especially in areas of executive functioning, reading, and math fluency.
In the study, 32 percent and 39 percent scored below 86 on the Wechsler Adult
Intelligence Scale Performance IQ and Processing Speed Index scores,
respectively, compared to 15 percent in national norms; 26 percent and 22
percent of patients scored below 86 on the Wechsler Memory Scale Visual
Immediate and Immediate Memory scales, respectively, compared to 15 percent in
national norms. Controlling for age, gender, and education, patients and
controls differed significantly on the Wechsler Adult Intelligence Scale
Processing Speed Index score and the Woodcock-Johnson score including reading,
math, and following directions. Sub-tests of the Test of Everyday Attention --
in attention and flexibility of thought -- showed significant decrease in
performance with age in sickle cell patients, but not in controls.
In 82 patients with MRIs, 63 percent had an abnormal MRI or
neuropsychological dysfunction, 38 percent had atrophy and/or ischemic lesions,
and 18 percent had ischemic lesions only. Low Performance IQ and Processing
Speed Index were significantly associated with ischemic lesions. Adjusting for
age and gender, hippocampal volume (the size of the hippocampus, the part of the
brain related to memory) in patients was 541.1 µL less than controls and
cerebrospinal fluid volume in patients was 16 mL greater than controls. These
differences are significant.
The level of hemoglobin (the oxygen-carrying molecule in the blood) was an
independent predictor of verbal IQ, Performance IQ, Processing Speed Index,
math, and executive function. Patients with lower hemoglobin scores had lower IQ
scores, and ischemic lesions alone did not account for the extent of the
neuropsychological impairment observed. Hemoglobin levels, age, and hippocampal
volume were predictive of the neuropsychological dysfunction, suggesting a link
between reduced oxygenation, neuronal loss, and cognitive impairment. These data
support the importance of future trials on transfusion and improvement of
neuropsychological function.
-- Sequential deferiprone-deferoxamine superior to deferiprone monotherapy,
the current "gold standard" in patients with thalassemia major
[Abstract #575]
Aurelio Maggio, MD, Hospital 'V. Cervello', Palermo, Italy
This five-year, multicenter, randomized trial evaluated two chelating
regimens in 140 patients with thalassemia major, a genetic disorder
characterized by the underproduction of hemoglobin, the molecule in red blood
cells that carries oxygen to all tissues. Chelating agents remove excess iron
from the body, a common problem in red blood cell disorders because of the
associated blood transfusions. Excess iron can lead to organ damage and heart
failure. This trial evaluated deferiprone monotherapy compared with sequential
treatment with deferiprone for four days followed by deferoxamine for three
days. While deferiprone is an oral drug, deferoxamine is administered via
subcutaneous infusion.
The study found that long-term use of sequential deferiprone-deferoxamine
treatment was more effective than the "gold standard" treatment of
deferiprone alone, with milder and reversible side effects, such as reversible
leukocytopenia (low number of white blood cells) and hypertransaminasemia, which
was defined as the increase of serum alanine transaminase levels up to two times
in comparison to normal values. In addition, after one year of treatment, the
deferiprone-deferoxamine group showed greater efficacy in terms of serum
ferritin level reduction than the deferoxiamine-only arm of a previous
randomized clinical trial in which a comparable cohort of patients were studied.
-- Deferasirox, an oral iron chelator, works as well as deferoxamine, which
requires subcutaneous injection, among sickle cell patients; possible
implications for improved patient compliance, reducing risk of organ damage
[Abstract #3395]
Elliott Vichinsky, MD, Children's Hospital and Research Center, Oakland, CA
This four-year extension trial among 185 patients with sickle cell disease is
a follow-up study to a one-year trial that showed that deferasirox and
deferoxamine were equally effective at reducing liver iron concentration. In
this four-year extension study, all patients stayed on deferasirox (n=132) or
were switched to the therapy (n=53). The trial showed that deferasirox
demonstrated dose-dependent efficacy in patients with sickle cell disease, with
a manageable tolerability profile and no new adverse events reported over a
median of 2.1 years of treatment. Because deferoxamine must be delivered via a
subcutaneous injection, patients must typically visit their doctor's office or
local clinic. Deferasirox is taken orally and therefore may support improved
patient compliance, a key factor in avoiding complications of iron overload,
including kidney damage.
In addition to sickle cell disease and thalassemia, press briefings will take
place at the annual meeting focusing on leukemias, hematologic malignancies,
blood clotting and bleeding disorders, and transplantation. The study authors
and press program moderator will be available for interviews after the press
program or by telephone. For the complete annual meeting schedule and additional
information, please visit http://www.hematology.org/meetings/2007.
The American Society of Hematology (www.hematology.org) is the world's
largest professional society concerned with the causes and treatment of blood
disorders. Its mission is to further the understanding, diagnosis, treatment,
and prevention of disorders affecting blood, bone marrow, and the immunologic,
hemostatic, and vascular systems, by promoting research, clinical care,
education, training, and advocacy in hematology.
Website: http://www.hematology.org/
Website: http://www.hematology.org/meetings/2007/
Toddler Keeps a Big Man Grounded - Jazz
Star Boozer's Son Fights Sickle Cell Disease
http://www.washingtonpost.com/wp-dyn/content/article/2007/11/30/AR2007113002487.html
When Carlos Boozer opened the door to his home in Miami last week, his curly
haired, 18-month-old son, Carmani, trotted up to him. They shared a hug that had
been anticipated for almost six weeks -- ever since Carmani was released from a
hospital following a bone marrow transplant to treat sickle cell disease and
Boozer left his family to join the Utah
Jazz.
Through the time apart, Boozer tried to stay connected to his family as best
he could. Before practice, after practice, after games, Boozer was on his
cellphone making calls and sending text messages for updates. When he got to his
home in Salt
Lake City, Boozer would speak to his wife, CeCe, Carmani, and infant twins,
Cameron and Cayden, through a webcam set up on his personal computer
People with Diabetes and Sickle Cell Trait Should Have
Reliable A1C Test
Campaign Informs Physicians and Patients http://www.nih.gov/news/pr/nov2007/niddk-28.htm
A new information campaign of the National Institute of Diabetes and
Digestive and Kidney Diseases (NIDDK), part of the National Institutes of
Health, highlights the importance of using accurate methods to test hemoglobin
A1c in people with diabetes who have sickle cell trait or other inherited forms
of variant hemoglobin. The specific needs for testing blood glucose control in
these patients are explained in two booklets, "Sickle Cell Trait and Other
Hemoglobinopathies and Diabetes: Important Information for Physicians" and
"For People of African, Mediterranean, or Southeast Asian Heritage:
Important Information about Diabetes Blood Tests" from NIDDK’s National
Diabetes Information Clearinghouse at www.diabetes.niddk.nih.gov.
Studies have repeatedly shown that intensive control of blood glucose, blood
pressure, and cholesterol reduces heart disease and the other complications of
diabetes. The hemoglobin A1c blood test (or simply the A1C test) is an essential
tool in diabetes care because it shows a patient’s average level of blood
glucose control in the previous 2 to 3 months. Physicians base their treatment
decisions in large part on the A1C test results. Inaccurate A1C readings,
whether falsely high or low, may lead to the over treatment or under treatment
of diabetes.
"In the United States, more than 3,000 labs rely on 20 different methods
to measure A1C in people with diabetes," says Randie Little, Ph.D., who
heads the NGSP. "However, six of these methods yield unreliable results in
patients with sickle cell trait. Health care professionals caring for people
with diabetes should know that specific A1C tests should be used in this group
of patients."
Many individuals are unaware they have a hemoglobin variant such as sickle
cell trait because the condition usually causes no symptoms. In diabetes
patients of African, Mediterranean, or southeast Asian descent, several
situations may suggest the presence of a hemoglobin variant:
- an A1C result does not correlate with results of self blood glucose
monitoring
- an A1C result is different than expected or radically differs from a
previous test result after a change in lab A1C methods
- an A1C result is more than 15 percent.
"If you see a significant discrepancy between a patient’s A1C reading
and the results of routine blood glucose monitoring, consider the possibility
that your patient may have a hemoglobin variant and find out if your lab is
using an accurate method to measure A1C," advises NIDDK Director Griffin P.
Rodgers, M.D.
November 2007
AMA Recommends Public Cord Blood Banks
HONOLULU (AP) — The nation's largest doctors' group this week adopted new
ethical guidelines for how physicians should talk to pregnant patients about
donating their babies' umbilical cord blood. The American Medical Association
voted during a two-day meeting in Hawaii to encourage mothers wishing to donate
to give the blood to public cord blood banks.
The stem cells in cord blood have the potential to save lives. They're the
same stem cells that make up the bone-marrow transplants that help many people
survive certain cancers and other diseases. But cord blood is more easily
transplanted into unrelated people and can be thawed at a moment's notice,
giving it advantages over bone marrow. "Umbilical cord blood stem cells are
useful for some therapeutic purposes and as a potential source of stem
cells," board member Dr. William A. Dolan said in a statement Monday.
"Physicians should be prepared to discuss cord blood banking options with
their patients during pregnancy."
About 50,000 cord blood donations are stored in more than 20 public banks
around the country. The National Cord Blood Inventory aims to triple that number
so that almost everyone who needs stem cell treatment may find a match. The
American Medical Association's new ethical guidelines said doctors will ideally
obtain their patient's consent to donate the baby's cord blood before the mother
goes into labor. Doctors should also disclose any ties they have to a cord blood
bank, the guidelines said. Further, doctors should never accept fees for a
referral to a chord bank, the association said.
The American Academy of Pediatrics earlier this year issued its own set of
guidelines on the issue. Those urge more parents to donate their babies' cord
blood. The pediatricians' group also addresses whether patients should keep the
cord blood in a private bank for their child's own if they should donate the
blood to a public bank. The academy concluded parents should consider private
storage only if an older sibling has cancer or certain genetic diseases that
cord blood is proven to treat. Otherwise, they should consider donating their
child's cord blood to a public bank. The academy said a child has only between
one in 1,000 and one in 200,000 chance of needing an infusion of his or her own
cord blood later in life. http://ap.google.com/article/ALeqM5h9XJOY3BBPSK3jDM-tqtKMood_ZgD8STNE7O0
New Blood Substitutes Promise Relief for Sagging Blood Banks
Researchers are stepping up efforts to develop a safe blood substitute amid a
growing demand and dwindling supply of the real thing to treat trauma victims
and blood disorders such as potentially deadly types of anemia.
Their major hurdle: to come up with a replacement for hemoglobin (an
iron-enriched protein in red blood cells that transports oxygen from the lungs
to the rest of the body) that can be directly introduced into the human
circulatory system. The problem is that the body breaks down and eliminates real
hemoglobin that is not protected by red blood cells, a process that can be toxic
to the kidneys, constrict blood vessels (resulting in hypertension), and cause
inflammation.
The Texas Tech University Health Sciences Center in Lubbock and Dallas-based
blood substitute developer HemoBioTech, Inc., believe they have a chemically
modified bovine hemoglobin called HemoTech that not only suppresses hemoglobin's
inherent toxicity but also serves to improve blood flow and even spur the
creation of new red blood cells. "This represents a learning from all of
the failures that have proceeded us over the past 35 years," says Arthur
Bollon, HemoBioTech's chairman and chief executive officer. Texas Tech
University spun off HemoBioTech in 2002 to commercialize HemoTech
http://www.sciam.com/article.cfm?id=blood-substitutes-hemoglobin-anemia#comments
SCDAA
Alerts Diabetes Patients of Potential Inaccurate Glucose
Test Hb A1c in Sickle Cell Trait
Baltimore, MD --
During a forum on Capitol Hill yesterday with Congressional staff and
Legislators, Dr.
Willarda V. Edwards
, President and COO of the Sickle Cell Disease Association of America, discussed
the issues faced by persons affected by sickle cell disease as it relates to
diabetes and the HbA1C test.
The study released this month during
Diabetes awareness month was presented by Dr. Griffin Rodgers from the National
Institute on Diabetes and Digestive Kidney Diseases (NIDDK). The study was
launched, when in March 2007, Congresswoman Barbara Lee asked a simple question
during an Appropriations hearing. She asked about the possible public health consequences of false diabetes
diagnoses resulting from the common A1C test when administered to people with
sickle cell trait.
Research
by NIDDK revealed there was a problem with false positive/false negative tests
when the “hemoglobin A1C” test is used to monitor the control of blood sugar
levels in persons with sickle cell. The research showed that the A1C test was
possibly ineffective for ethnic groups with variant strains of hemoglobin (as in
sickle cell trait) such as people of Mediterranean, African or Southeast Asian
heritage.
NIDDK
said, “When the A1C is administered to individuals with variant hemoglobin
they may possibly be over- or under-treated based on false blood glucose levels
reported by the test, which could then also create further health complications.
As a result of the exchange in the hearing, this month, NIDDK is releasing two
new fact sheets to alert people to the problem, one for patients and one for
physicians.”
Congressman
Barbara Lee (D-CA) and CBC Health Braintrust Chair, Donna M. Christensen, a
family physician, urged everyone to spread the information widely. Congresswoman
Christensen indicated “the CBC Health Braintrust will work with the Sickle
Cell Disease Association of America, the National Medical Association, the
American Diabetes Association and other important groups to make sure that this
information is widely disseminated.” Congresswoman Christensen urged anyone
with diabetes and a history of sickle cell or other hemoglobin abnormalities in
their families to be tested as soon as possible.
Sickle Cell in
Nigeria -
an Update by
PETER
MATHEW NNAMDI AZOLIBE, AIMLT, MSc, Ashoka Fellow, President/Founder Projects
Development for Children Survival (PRODECS) INC.
In
Nigeria
about 100,000 babies are born annually with sickle cell Disease (SCD) and 50 %
die at infancy (World Health
Organization, WHO1994. Also 23.7% (Omotade etal 1998), 25%(WHO 1994), 25-28% (Falusi
and Olatunji, 1994) were estimates for sickle cell traits (As), a
harmless carrier status in sickle cell phenomenon. There is no
educational enlightenment and screening services in the rural villages. Sickle
cell disease being a devastating genetic disorder in the rural communities needs
a radical solution. Sickle cell disease child may be born by a couple whose
hemoglobin genotype contains sickle cell gene in either homozygous (SS) or
heterozygous state (AS). To improve the situation, PRODECS has launched what it
tagged: “Integrated program on sickle cell Disease Reduction IP-SCD-R (a. k.
a. War Against sickle sell Disease, WASD). To achieve the feat of elaborating
sickle cell visibility in rural communities radical activities will be
appropriated to include training, sensitization, survey, advocacy and
institutionalization in the rural villages and PRODECS choose Anambra as a pilot
state because of high percentage of rural communities (85% of 177 communities in
Anambra State is rural). The purpose of this initiative to contribute to sickle cell disease
incident reduction and to build an accessible sickle cell resource centers,
organize a data base and frame work for elaborate sickle cell treatment
structure that will integrate early screening with counseling and treatment that
will benefit rural dwellers and their urban counterparts in Nigeria beginning
with Anambra State. The initiative is implemented to have positive impact on
sickle cell situation of the state, improved health conditions of people living
with sickle cell disease (PLWSCD), improved socio-economic conditions of
families, overcoming lopsidedness in provision of screening facilities in the
state, provide equal access opportunity for sickle cell information and
screening services by establishment of rural community based information and
screening centers. It also give opportunity for capacity training of both
PRODECS staff (thus contributing to PRODECS institutional strength and
development), and health/social workers through educating and updating them with
latest information on sickle cell management (thanks to Georgia comprehensive
sickle cell center in Atlanta for being our major information resource in this
regard). In addition, PRODECS in the past has conducted a state wide launching
of sickle cell awareness in
Anambra
State
which targeted government stake holders, community leaders, and youth
organization. Finally, PRODECS has opened 3 community based sickle cell
information and screening centers at: Isuofia, Oko and Umunze all IN Anambra
state.
With the aim of providing favorable legislative conditions
for sickle cell treatment, PRODECS lobbied the Anambra state Bill on Sickle cell
eradication and control which was finally passed into law by
Anambra state House of Assembly and signed on January, 2002 cited and
known as sickle cell Disease control and Eradication law 2002
Having studied
the existing health and socio-economic burden associated with sickle cell
disease the following priorities have been established.Strengthening PRODECS
relationship with various stakeholders.
- Private Hospitals/screening facilities
- General Hospitals/screening facilities
- Cottage Hospitals/screening facilities
Substantial reduction in birth rate of sickle cell babies by providing
rural dwellers equal opportunities for sickle cell awareness by sensitizing a
number of people in a number of communities through seminars targeting women
leader community leaders, health workers and clergy.
To train and organize sickle cell patients, their parents
and friends to build up a effective legal advocacy to push cases concerning the
sickle cell disease as a political agenda.
Stimulate general discussion on sickle cell disease through lecture
and announcement in churches, schools and villages
The strategy of the initiative is directed on the formation
of effective mechanism for sustainable sickle cell disease prevention and
improvement on the needs of sickle cell disease patients in a rural population
through public awareness, legislation and institutionalization.
It was during this period that PRODECS achieved its
greatness feat by influencing public policy in
Anambra
State
through elaboration of sickle cell legislation through Anambra State House of
Assembly. During the period PRODECS studied the various levels of sickle cell
treatment from the remote villages to the reference centers including screening
counseling and management.
The educational presentation covers definitive issues
involved in sickle cell disease including cultural, prevention and care.
Adoption of a law on sickle cell control and Eradication in Anambra state of
Nigeria
dated January 1, 2002.
Establishment of sickle cell control committee in the state
Ministry of Health, June 2004. Reduced birth rate of sickle cell babies through
genetic counseling of prospective marriage partners. Enhanced quality of sickle
cell screening by supplying laboratory workers with professionally prepared
hemoglobin electrophoresis butter solution with appropriate cellulose acetate
paper and also standardized 20 private laboratories
for urban sickle cell screening services. Also PRODECS sponsored evaluation of
facilities for sickle cell screening in the urban centers and provided them with
necessary quality control.
Institutional strengthening of PRODECS via increased number
of voluntary workers engaged in the sensitization exercise of the initiative
which facilitated PRODECS information dissemination. Positive change of
Government attitude in particular and NGOs in general towards sickle cell
awareness program in
Anambra
State
. Established a network of organizations with interest on sickle cell. Has made
one international publication in march 2005 edition of
Georgia
comprehensive sickle cell center in
Atlanta
where the founder of PRODECS wrote on the sickle cell situation in
Nigeria
.
Launched state wide campaign in March 2000 tagged; War
Against sickle cell Disease, (WASD) 2000.
Besides, it promoted equal opportunity for rural dwellers
for access to social amenities and life supporting services particularly sickle
cell services be it educational, screening or care. The rural people saw sickle
cell disease to be an evil and devilish phenomena. Sickle cell screening and
counseling meant nothing when such interest arose. However PRODECS initiative
had started solving these problems through elaboration of genetic origin of
sickle cell disease.
Sickle Cell Hope Journal launched in Nigeria - With an estimated 25% of Nigerian citizens
harboring the sickle cell trait and about 4 million having the genetic disorder full-blown, awareness of the condition is very low. The match of sickle cell
anemia is helped mainly by ignorance and this has consequences for the family and society at large.
A magazine aimed at combating ignorance and the spread of sickle cell by empowering readers with information is now around the corner.
The maiden issue comes out in December 2007. The Editor of the Hope Journal is Ayoola Olajide, an experienced teacher, medical social worker and journalist.
scdjournal@yahoo.com
Sickle cell: A victim of bigotry in England?
When Hellen Adom, who has sickle cell anaemia, was just 16-years-old
doctors told her she might only live another 10 years.
She confounded the pessimists, and now, aged 43, she is still well. However,
she is also very aware that despite medical advances, the average life
expectancy for a person with sickle cell is still only 47. Sickle cell is an
inherited genetic condition in which there is an abnormality in haemoglobin, the
oxygen-carrying protein found in red blood cells. Some experts fear research
into the condition is being underfunded because it mainly affects ethnic
minorities.
More information needed
"I can't really remember knowing that I had sickle cell before I was
about 16," said Hellen. "But I knew that I had something. I was always
a frail child and used to have crises, where I would go to bed in pain. "My
mum would keep me off school and keep me warm and well hydrated.
More needs to be done
Lorna Bennett, Chairwoman, Sickle Cell Society agreed: "Around 12,500
people in England currently live with sickle cell, compared to the 7,500 people
affected by cystic fibrosis."Both are genetic diseases yet, sickle cell,
which affects predominantly black and minority communities, has been
comparatively under-funded.
"This is no longer acceptable. More needs to be done to help those
living with sickle cell and thalassaemia receive the care and support, both in
the community and in hospitals, to ensure the best quality of life
possible." Dr Allison Streetly, of the NHS Sickle Cell and Thalassaemia
Screening Programme said more is being done. http://news.bbc.co.uk/1/hi/health/6936326.stm
Stem cell and marrow network trying to spread message to
ethnic communities
Nov 3, 2007
VANCOUVER - Outside a suburban mall on a soggy weekend afternoon, many
elements of hip hop culture were on display: breakdancers doing acrobatic flips
and swirls, hip hop musicians freestyling and a graffiti artist wearing a paint
mask creating a neon-coloured mural.
The event attracted a good-sized crowd, which seems to recognize the
performers like Moka Only and Checkmate, but hadn't a clue as to its
purpose.This was something Jesse Plunkett hoped to change.The founder of
Ottawa-based HipHopCanada.com wanted to convince the young, largely ethnic
audience to register with the stem cell and marrow donor bank.
Plunkett took up the unlikely cause after a member of his online community
passed away from leukemia. Nick Schilbach, 22, of Abbotsford died despite having
a compatible donor in his younger brother.For 26-year-old Plunkett, who recites
statistics like a trained spokesman, said it was important to carry on
Schilbach's message of the need for more ethnic donors.
"With stem cells, it really comes down to having an ethnic match,"
he said. "With the ethnic match, it's crucial that the registry is
comprised of equal amount of all ethnic groups in Canada."Since 85 per cent
of stem cell donors are Caucasian, those in the black, Chinese, South Asian or
Filipino communities in need of a transplant for such illnesses as leukemia,
lymphoma or sickle-cell have far less chance of finding a match for a
transplant.
"We're creating awareness of the need of people of all walks of life to
register and become potential donors," he said. http://canadianpress.google.com/article/ALeqM5jkDo7PffDAz_jnwxOhCpGKOuM-Xw
Bobby Engram has been named the Seahawks 2007 Walter
Payton/NFL Man of the Year
KIRKLAND, WASH. – Seattle Seahawks wide receiver Bobby Engram has been
named the Seahawks 2007 Walter Payton/NFL Man of the Year for his on-going work
in the community and his achievements on the field.
Engram has dedicated himself to Sickle Cell Anemia research, a hereditary
form of anemia in which the red blood cells become sickle-shaped and less able
to carry oxygen. For the past two years he has held a walk for the disease at
Seward Park and has spoken with state legislators about the importance of
funding for Sickle Cell Research. This past August, he spoke at the Lenny
Wilkens Foundation Dinner/Auction which raises money for the Odessa Brown
Children's Clinic. http://blog.seattlepi.nwsource.com/football/archives/125946.asp
Tulane Medical Center to open sickle cell day
hospital
To help steer patients with sickle cell disease away from local emergency
rooms, a Tulane University hematologist plans to open a day hospital to care for
patients during their periodic bouts of pain.
Dr. Rebecca Kruse-Jarres will launch the five-bed hospital next month inside
Tulane Medical Center. She has assembled a team that includes a nurse, nurse
practitioner, social worker and pain specialist to work alongside her and
develop trusted relationships with adult sickle cell patients.
Afflicted patients most often seek relief in hospital emergency rooms, which
have been choked in almost perpetual gridlock since Hurricane Katrina destroyed
other health-care resources, from primary-care clinics to psychiatric hospitals.
Sickle cell patients often have to abide the pain for hours as ER doctors treat
patients with more critical conditions.
When it opens in November, the day hospital will allow sickle cell patients
to bypass the emergency room altogether. Kruse-Jarres said her team of
caregivers will provide rapid care that costs less than an emergency room visit.
The population of sickle cell patients is also small enough -- there are maybe
200 in the city -- that her team of caregivers will most likely know them by
name.
"If you have a day hospital, a place patients can go to be treated right
away by a team that knows sickle cell disease and that probably knows them too,
you can deliver much better care," she said. http://blog.nola.com/times-picayune/2007/10/hospital_to_help_sickle_cell_p.html
New Pediatric Sickle Cell Clinic at Children's Healthcare
of Atlanta at Hughes Spalding
A newly renovated area of Children's Healthcare of Atlanta at Hughes
Spalding, a children's hospital across the street from Grady Memorial Hospital,
was designed especially for Albin and his fellow sickle cell and hematology
patients.Though only temporary, it is a precursor for what hospital officials
hope to create — a state-of-the-art facility for pediatric sickle cell
patients.
The 1983 building eventually will be renovated for clinics. Architects also
are putting final touches on plans for a new building scheduled to get under way
next year, part of a larger vision for a new Hughes Spalding hospital.The
Fulton-DeKalb Hospital Authority, which retains ownership of Hughes Spalding,
must sign off on the plans and submit a request for a Certificate of Need to the
Georgia Department of Community Health. The process is expected to take three to
four months from the time the application is complete. If approved, the new
building will go up in the current hospital's parking lot.
The original 1952 Hughes Spalding building, constructed as a private hospital
where black doctors could practice, will be torn down.The new building will have
an area "specially designed and specially constructed for our sickle cell
program," said James Tally, CEO of Children's Healthcare of Atlanta.
"It's very important."Children's Healthcare — which also operates
Egleston and Scottish Rite hospitals for children — took over management of
Hughes Spalding last year from the financially strapped Grady Health System.
Children's Healthcare officials, who originally committed to invest $15
million in Hughes Spalding's buildings and equipment, now plan to spend more
than $40 million.The number of inpatient beds will be reduced from 40 to 20, and
emergency treatment, primary care and child protective services will be
priorities.
Special emphasis will be placed on treating patients with asthma and sickle
cell disease, the two most common diagnoses for children coming through the
hospital."When we first started talking about services and programs that
were important to the community in creating our vision for Hughes
Spalding," Tally said, "sickle cell emerged as a very, very important
initiative."Sickle cell disease, the most common genetic blood disorder in
the United States, affects more than 80,000 Americans.
Each year, about 2,000 babies are born with the disease, in which abnormal
protein transforms normally soft, flexible round red blood cells into rigid,
pointy shapes like the blade of a sickle.The faulty cells can block circulation,
cause pain in bones and muscles, and even trigger strokes. Children with sickle
cell disease also are at high risk for severe infection.
All infants are now screened for sickle cell disease in Georgia, but it is
most common in children with certain ethnic backgrounds, including
African-Americans, Arabs, Greeks, Italians, Latin Americans and Indians. Because
Hughes Spalding's patient population is largely black, the hospital treats a
disproportionate number of sickle cell cases.
With Grady's pediatric patients now under the Children's Healthcare umbrella,
the not-for-profit network becomes the country's largest provider of sickle cell
care. Its 1,500 patients are roughly equally divided among Egleston, Scottish
Rite and Hughes Spalding.
Children's has performed more bone marrow transplants to cure sickle cell
than any other center in the country. And, in partnership with the adult sickle
cell program at Grady, it is the largest center in a new Sickle Cell Disease
Clinical Research Network funded by the National Institutes of Health.
Clinical research is a valuable component of sickle cell care, said Dr.
Beatrice Gee, assistant professor at Morehouse School of Medicine and director
of the sickle cell and hematology program at Children's Healthcare of Atlanta at
Hughes Spalding.
"A strength of our Atlanta program, in addition to being focused on
high-quality patient care, is that we're also interested in advancing knowledge
about why problems occur and how we can treat them," she said.
The severity and range of symptoms varies hugely among children with sickle
cell disease, said Dr. Peter Lane, professor of pediatrics at Emory University
School of Medicine and director of the sickle cell program at Children's
Healthcare.Through research, he said, physicians may learn to predict
complications so they can lessen them as much as possible.Lane said he also
hopes research can make bone marrow and cord blood transplants available to more
patients, and even discover medications that will prevent sickling.
"Clinical research and cutting-edge care go hand in hand," Lane
said. "The best treatment is provided by centers that are participating and
involved in the latest research."Patients at all three Children's
Healthcare hospitals are participating in a current clinical trial on an
alternative to blood transfusions to prevent stroke in high-risk sickle cell
patients.
Albin, who's mastering Spider-Man 2, gets his monthly transfusions because of
a stroke three years ago when he was 10."It was the worst day of my
life," said his mother, Clorissal Alcantara."I didn't know if he was
going to make it."Alcantara adopted Albin, his brother and two sisters,
along with two other children. All Albin's siblings have sickle cell disease.
Alcantara gives them daily doses of penicillin and folic acid as prescribed
by physicians, rubs them down with Bengay to ease their muscle aches, feeds them
healthy meals, limits their physical activity and keeps them home from school at
the first sign of illness.Some months, the family has as many as 10 medical
appointments."And," said Alcantara, "if there's a pain crisis,
there's the emergency room."
She is willing to make the drive from her home in Douglas County to Hughes
Spalding as often as necessary. Until the new building is opened, she'll spend
her time in the freshly redone, but still cramped, sickle cell service area.Now,
at least, her children can have their doctors appointments in examining rooms
off the common area where Albin gets his transfusions. And anyone who needs
hospitalization will receive care in the same building.
That's a change from a month ago, when her children had to see their doctors
across the street at the mammoth Grady hospital. Medical records didn't always
make the transition between the two facilities.Alcantara thinks the care her
children get at Hughes Spalding is worth the trip."I have to travel a long
way to get there," she said, "but that's where they really focus on
sickle cell." http://www.ajc.com/metro/content/metro/atlanta/stories/2007/10/30/sickle_1031.html
New Sickle Cell Newborn Grant
Posted Date: Nov 02, 2007
Creation Date: Nov 02, 2007
Original Closing Date for Applications: Dec 04, 2007
Current Closing Date for Applications: Dec 04, 2007
Archive Date: Feb 02, 2008
Funding Instrument Type: Cooperative Agreement
Category of Funding Activity: Health
Category Explanation:
Expected Number of Awards: 1
Estimated Total Program Funding: $800,000
Award Ceiling: $750,000
Award Floor: $750,000
CFDA Number: 93.110 -- Maternal and Child Health Federal Consolidated Programs
Cost Sharing or Matching Requirement: No
Agency Name
Health Resources & Services Administration
Description
The purpose of this grant activity is to fund a cooperative agreement to support the grantee program addressing Sickle Cell disease and newborn screening as well as follow-up of infants identified with Sickle Cell disease or as carriers. This initiative will provide models, best practices, and dissemination strategies for ensuring optimal follow-up and management of babies identified with Sickle Cell disease and/or as carriers. The purpose of this cooperative agreement is to fund a national Sickle Cell disease organization that will partner with families, community-based Sickle Cell disease organizations, health care professionals, State agencies including State Title V and newborn screening programs, and MCHB and its National Newborn Screening and Genetics Resource Center, the Regional Genetics and Newborn Screening Resource Center, and the Sickle Cell Disease Treatment Program National Coordinating Center. It will serve as a national Sickle Cell disease coordinating center to deal with issues related to educational materials, a common data base, evaluation, counselor certification, partnership building and information exchange. It will also support implementation of 17 community-based Sickle Cell disease projects funded to enhance the follow-up component of State Sickle Cell disease screening programs and support community-based efforts that provide hemoglobinopathy counseling, Sickle Cell disease-related education, and a community forum between MCHB and the Sickle Cell disease community to identify and prioritize issues important to the Sickle Cell disease community. Funds available: $800,000 for one cooperative agreement. The cooperative agreement will be funded for 3 years subject to the availability of funding for years 2-3 and satisfactory grantee performance.
Link to Full Announcement
https://grants.hrsa.gov/webExternal/SFO.asp?ID=88025630-9EB6-4767-B814-F7D96B9305A3
October 2007
Children Can be Cured of Sickle Cell Disease and Thalassemia After Sibling
Cord Blood Transplantation: Results from ViaCell and Children's Hospital &
Research Center Oakland
ViaCell, Inc. (Nasdaq:
VIAC) and Children's Hospital & Research Center Oakland reported results
today that children with Sickle Cell Disease and Thalassemia can be cured with
umbilical cord blood from a compatible sibling. At the Sickle Cell Disease
Association of America and National Institutes of Health (NIH) 35th Annual
Convention, Dr. Mark Walters, Director of the Blood and Marrow transplant
program at Children's Hospital & Research Center Oakland presented research
data demonstrating that cord blood from a relative can be an effective source of
stem cells for transplantation in children affected with Sickle Cell Disease and
Thalassemia and may have advantages over bone marrow transplantation.
"Patients with Sickle Cell and Thalassemia often lead debilitating
lives," said Dr. Walters. "Through continued research and transplant
success, sibling umbilical cord blood has proven to be effective in curing
children of these blood disorders. I expect the use of umbilical cord blood will
continue to increase and as we gain more experience using cord blood stem cells
in transplant medicine, I believe it could outpace the use of bone marrow in
transplant medicine."
The data presented at the Sickle Cell Disease Association of America and NIH
meeting showed outcomes from children treated under The Sibling Connection
Program, a directed sibling transplant program implemented by ViaCord and
Children's Hospital Oakland Research Institute (CHORI), the research arm of
Children's Hospital & Research Center Oakland. This program has resulted in
cord blood treatments in more than 100 children to date. Of the children treated
under the Sibling Connection Program, 17 were transplanted for Sickle Cell
Disease and 23 were transplanted for Thalassemia. The median age of patients
treated for Sickle Cell Disease was 8 years and 5 years for patients treated for
Thalassemia.
Transplantation of sibling umbilical cord blood has demonstrated clinical
advantages over bone marrow transplantation in young children. In particular,
the risk of graft-versus-host (GvHD) disease, a common side-effect and the
leading cause of death in transplant medicine, is reduced. Of the children
treated, six patients with Sickle Cell Disease had acute GvHD. No patients
treated for Sickle Cell Disease had chronic GvHD. In addition, no acute or
chronic GvHD was observed in patients transplanted for Thalassemia.
The median time to neutrophil recovery (ANC greater than 500 cells per
microliter) and platelet recovery (greater than 20,000 per microliter) in
patients treated for Sickle Cell Disease was 18 days and 36 days, respectively.
82% of the patients treated for Sickle Cell Disease survive and are
disease-free. The median time to neutrophil recovery (ANC greater than 500 cells
per microliter) and platelet recovery (greater than 20,000 per microliter) in
patients treated for Thalassemia was 25 days and 47 days, respectively. 96% of
the patients treated for Thalassemia survive and 91% are disease-free.
In 2006, ViaCell and CHORI combined their efforts in the area of directed
transplants for sibling donor umbilical cord blood to form the Sibling
Connection Program. To date, over 100 children have been treated by cord blood
from units collected and processed through this program. This includes
transplants through cord blood collected, preserved and stored with ViaCord and
transplants using cord blood stored through CHORI's Sibling Donor Cord Blood
Program. The Sibling Connection Program provides ViaCord's comprehensive cord
blood collection, processing and five years of storage at no cost to families
who have a child diagnosed with a condition that can be treated with cord blood
stem cell transplant and meet the other requirements of the program. http://www.genengnews.com/news/bnitem.aspx?name=23356278
Abstract from the Sickle Cell Centers Meeting:
SIBLING DONOR CORD
BLOOD TRANSPLANTATION FOR HEMOGLOBINOPATHIES
Mark C Walters, MD,
Lynn Quirolo, RN, Sandie Edwards, Joanna Lee, PhD, Shanda Robertson, Kate
Falcon, RN, Robert Briddell, Keith C Quirolo, MD and Bert Lubin, MD.
Hematology/Oncology, Children's Hosp & Research Center at Oakland, Oakland,
CA, United States, 94609 and Viacell, Inc, Cambridge, MA, United States, 02142.
The Sibling Donor Cord Blood Program was initiated in 1998 as a resource
to collect, characterize, and release for transplantation cord blood units (CBU)
from families affected by malignant and non-malignant disorders. As of April
2007, 2265 CBUs have been collected among referrals from all 50 US States. The
categories of participation include malignant disorders (n=1128 or 50%), sickle
cell disease (SCD) (n=669 or 30%), thalassemia (n=133 or 6%), and other
hereditary or rare hematological conditions (n=335 or 14%).
To date, 100 children have been treated by cord blood transplantation (CBT)
from CBUs in the Sibling Connection Program, 72 using the CBU as the sole source
of hematopoietic cells. There was a very high rate of CBU utilization,
particularly among thalassemia families where 23 of 133 (17%) of CBUs collected
have been released for CBT. CBT recipients with thalassemia major (N=23) had a
median age of 5.2 (range, 2.4 – 15) years and received CB grafts with a median
total nucleated (TNC) and CD34+ cell dose of 8.3 x 107/kg
and 1.7 x 105/kg recipient weight, respectively.
CBT recipients with SCD (N=17) had a median age of 8.4 (range, 2 –
14.4) years and received CB grafts with a median TNC and CD34+ cell dose of 4.1
x 107/kg and 1.1 x 105/kg
recipient weight, respectively. Hematopoietic
cells from cord blood and marrow collections from the same sibling donor were
combined in 29% and 35% of SCD and thalassemia recipients, respectively.
The median time to ANC >500/mm3 and platelet
>20,000/mm3
was 18 and 36 days, respectively among SCD recipients and was 25 and 47 days,
respectively among thalassemia recipients. Among all 40 patients with
hemoglobinopathies, 36 (90%) survive, and 35 (88%) survive disease-free.
Graft rejection with disease recurrence occurred in 1 patient (2.5%).
The rates of survival and event-free survival were somewhat better among
children with thalassemia compared to those with SCD (96% and 91%, respectively,
compared to 82% and 82%, respectively), which might reflect the younger age of
thalassemia children at CBT. Of
interest, there was no acute or chronic graft-versus-host disease (GVHD) after
CBT for thalassemia, and 6 children with SCD developed grade I-III acute, but
none had chronic GVHD after CBT.
These results confirm that CBT like bone marrow transplantation is
curative therapy for children with clinically significant hemoglobinopathies.
The ability to combine cord blood collections with a marrow harvest from the
sibling donor effectively reduced the incidence of graft rejection.
Transplantation of sibling CBUs in lieu of bone marrow may be particularly
advantageous in very young children where cell dose and GVHD, in particular,
have an important bearing upon outcome.
Utah Jazz: Son's disease to delay Boozer Camp is 2nd to
sickle cell treatment
By his own estimation, Carlos Boozer has been "working his tail off"
in the offseason so he will be in the best shape possible when he joins the
Jazz in training for the upcoming season.
But his reunion with his teammates in training camp has
been delayed while he cares for his year-old son, Carmani, who recently
underwent a bone marrow transplant to treat his sickle cell disease and
remains in a Miami hospital.
The Jazz have media day Monday, after which they'll travel
to Boise, Idaho, for training camp that runs through Oct. 6. The Jazz have
given Boozer permission to report late. It's unknown when he'll join the team.
"As soon as my son is home from the hospital and
stable, I will join my teammates," Boozer said in a statement. "Your
thoughts and prayers are appreciated by me and my family during this time. We
have been in contact with the Jazz organization, including Mr. [Larry] Miller,
Kevin O'Connor, and Coach [Jerry] Sloan, and all of my teammates, and everyone
has been incredibly supportive of my family during these days. We want
everyone to know how grateful we are for that." Doctors used stem cells
in the procedure from the umbilical cord of Boozer's wife, CeCe, who gave
birth to twins in the summer. The procedure is one of the many new treatments
researchers are studying, Edwards said.
"It's an exciting time because there are a lot of new
treatments, but it's also depressing, because we don't have the funding for
them," she said. "There is one genetic defect that causes this, and
if we put some energy into it, this could be the first genetically cured
disease."
http://origin.sltrib.com/sports/ci_7023819
Consumer Taskforce on Newborn Screening Established
WASHINGTON, Sept. 17 (AScribe Newswire)
-- Genetic Alliance announced today the establishment of the Consumer Taskforce
on Newborn Screening (CTF-NBS). The ten-member group includes parents who have
experienced a range of NBS outcomes - carrier identification, false positive
screening, and typical/normal screening - as well as those who have a child with
a condition for which there is no medical treatment at this time, and those
whose child did not have access to screening for the condition s/he has. Thus,
the CTF-NBS includes parents who are experienced in various aspects of the NBS
system in addition to those who are just starting to navigate these issues. The
CTF-NBS will ensure the integration of consumer perspectives in the planning and
implementation of the Consumer Focused Newborn Screening projects, two
cooperative agreements awarded by the Genetic Services Branch of Health
Resources Services Administration/HHS.
Several advocacy organizations are
partnering with Genetic Alliance in the CTF-NBS: Cares Foundation, Children's
Sickle Cell Foundation, Citizens for Quality Sickle Cell Care Foundation,
Hunter's Hope Foundation, and Save Babies through Screening Foundation. Adds
Micki Gartzke, Director of Education and Awareness for Hunter's Hope Foundation,
"This Taskforce brings consumers of NBS together in a novel and innovative
way. Through our discussions, the taskforce will ensure that the consumer
perspective is central to the models produced from these projects."
By bringing together a broad spectrum of
viewpoints, we create a forum for the assessment of different ideas about
newborn screening using the question "what is at stake?" This focus
enables multiple interests to be boiled down to their core fundamental issues,
leading to the empowerment of consumers from different interest groups. This
process will help both veteran and new NBS stakeholders to understand the issues
and policies around NBS. Victoria Odesina, Co-Founder and Board member of
Citizens for Quality Sickle Cell Care, remarked, "I hope that through this
project, the sickle cell 'community' will have a better understanding of and
involvement in NBS issues for health promotion."
Through the Consumer Focused Newborn
Screening projects, the CTF-NBS will be instrumental in identifying and
empowering other consumers in the NBS community. For example, by preparing
consumers to attend the Secretary's Advisory Committee on Heritable Disorders
and Genetic Diseases in Newborns and Children (ACHDGDNC) meetings, the CTF-NBS
will be encouraging others to participate in education and policy initiatives
for NBS. This will not only increase the education of these consumers but also
the greater knowledge of the stakeholder communities that they represent.
"The CTF-NBS will disseminate knowledge and understanding about NBS issues
to the communities and stakeholders that we represent," notes Jill Levy-Fisch,
President of Save Babies Through Screening Foundation.
Natasha Bonhomme, Program Coordinator
for the Consumer Focused Newborn Screening projects, will manage the CTF-NBS.
CONTACT: Natasha Bonhomme, nbonhomme@geneticalliance.org, 202-966-5557, x. 211 http://geneticalliance.org/
MDs Launch Network to Treat Sickle Cell By
ANDALE GROSS – Sep 26, 2007
KANSAS CITY, Mo. (AP) — Ernestine Diamond says her intensely painful
sickle cell crises started when she was a baby, but her doctors back then knew
nothing about the disease. It wasn't until she had complications during the
birth of one of her own children about 20 years later that she learned she had
sickle cell anemia — an inherited disorder in which defective hemoglobin
causes red blood cells to take on a sickle or crescent shape, hindering blood
flow and depriving organs and tissues of oxygen.
Now, at age 80, Diamond is proof that sickle cell doesn't have to be a
death sentence and that patients can live well into adulthood. But she and
others on the disease's front line say the health care community is lagging
when it comes to providing adult sickle cell patients with consistent care.
"You face problems being an adult sickle cell patient," said Diamond
of Kansas City, Mo. "You really have to fight to get support."
A network of health care professionals and researchers from Missouri,
Kansas and more than 30 other states is working to do something doctors and
other advocates have been trying to do for years: improve the sickle cell
landscape so it better addresses the needs of adult patients. The group —
called the Sickle Cell Adult Provider Network — is developing what its
members say will be the first-ever comprehensive set of best practices for
doctors and nurses to follow when treating adult sickle cell patients.
Sickle cell specialist Dr. Kathryn Hassell of Denver, who formed the
network, said the first phase of the practices will be available in the next
few months."Everybody who works with sickle cell recognizes it's time to
start paying attention to the adults," said Hassell, director of the
Colorado Sickle Cell Treatment and Research Center. "We're so good at
raising the children and keeping them healthier into adulthood. It's time to
do that for the adults."The practices will cover such issues as how to
better manage pain for adults who have sickle cell pain crises, and whether
regular blood transfusions can improve conditions of adult patients like they
do children.
"I have younger patients who get blood exchanges once a month, and I
don't think they should be denied that once they're adults just because
there's no research," said Elizabeth Nelson, a University of Missouri
Health Care nurse clinician and member of the Sickle Cell Adult Provider
Network.Besides feeling intense pain throughout the body for days or weeks,
sickle cell patients also can suffer breathing problems and be more at risk of
having a stroke or developing an infection or organ failure.Patients generally
are given pain medicine and intravenous fluids during a sickle cell pain
crisis. If complications arise, they might be given a blood transfusion.
The number of people in the U.S. who have sickle cell has risen about 42
percent in recent years, said representatives of both the Sickle Cell Adult
Provider Network and Sickle Cell Disease Association of America. It's now
around 100,000, they said, with more adults with the disease living
longer.Sickle cell mainly affects blacks, but also a growing number of
Hispanics."In general people are living longer, but that shift is even
more dramatic in sickle cell because of the improvements in treatment,"
Hassell said. "Now, we fully expect people with sickle cell disease to
live into their 40s and 50s and even into their 60s and 70s." For years,
sickle cell was seen as a young person's disease. "People honestly didn't
think people with sickle cell would live to their 40th birthday," said
Joseph Telfair, public health research professor at the University of North
Carolina at Greensboro. Better treatment for infections and pain crises has
led to patients living much longer, Telfair said.
"Now, you have really healthy persons with sickle cell disease who are
anywhere between 18 and over who are now showing up (at hospitals and doctor's
offices), and people don't know how to treat them," he said. Dr. Zahida
Yasin, who's also a member of the Sickle Cell Adult Provider Network, said
there needs to be more treatment centers for adults who have sickle
cell."We are at the same crossroads with adults with sickle cell disease
that we were with the children 30 or 40 years ago," said Yasin, an
associate hematology/oncology professor at the University of Cincinnati.
Truman Medical Center in Kansas City, Mo., has an adult sickle cell center.
Within the last year, the sickle cell center was redesigned to update the
examination rooms and other areas. "We are trying to provide a very calm,
relaxing, therapeutic environment, because that's so important to sickle cell
patients," said Dr. Angela Garner, the center's medical director. Diamond
is among the center's 130 patients. She said the center helps patients who
have received consistent treatment in their younger years continue to get the
proper care as adults.
Patient Sherry Webb, 41, also of Kansas City, Mo., said she likes how the
center designs treatment plans that fit each patient's specific needs.
"We all have our different needs, and what might work for me might not
work for the next person," said Webb, whose pain crises are usually
sparked by stress.
Diamond and Webb said it's comforting to know that the center's staff of
three keeps regular, daily hours and has sickle cell expertise. But despite
bright spots like the center at Truman, they said the struggle continues for
adult sickle cell patients. Things are coming up for us," Diamond said.
"But they're slow in coming."
Sickle Cell Adult
Provider Network: SCAPN, a network of health care professionals from more
than 30 states, is developing a set of guides for health care workers to
follow when treating adult sickle cell patients, the Associated
Press reports. The guides will address pain management and the
benefits of blood transfusions. The disease mostly affects blacks, but a
number of Hispanics are being diagnosed with the disease http://www.uchsc.edu/scapn/
Could I Be a Better Patient? By
Jennifer Huget Special to The
Washington
Post Tuesday, September 25, 2007; Page HE06
You think you've got this being-a-patient thing down pat: You put on your
paper gown (opening in the back), flip through a dog-eared People
magazine, have your blood pressure taken, see the doctor for five minutes,
answer his or her questions, pay your co-pay and get back to work.
But is there anything you can do to get more out of that doctor visit?
A lot, according to three experts: Richard Frankel, a geriatrics professor
and senior research scientist at the Regenstrief Institute of the Indiana
University School of Medicine; Carolyn Clancy, director of the federal Agency
for Healthcare Research and Quality (AHRQ); and Richard Kellerman, president
of the American
Academy of Family Physicians (AAFP). And you'll help your doc do a better
job, too.
1.Keep Lots of Lists, and Carry Them Around: Take time to write down
your medical history, including any diagnoses and key lab tests you've had, any
hospitalizations or surgeries, all the medications you take -- including any
herbal remedies -- and your allergies and immunizations, Kellerman advises. And
carry the list with you. "You never know when you go out of town whether
you're going to end up in an emergency room somewhere," he notes.
2.Bag Your Meds: Before seeing your doctor, put all your medicine
bottles -- again, including any herbals or over-the-counter drugs you use -- in
a bag and take them along. Your doctor can sort through them with you, looking
for potentially dangerous interactions, getting rid of drugs that have expired
and simply confirming that "the blue pill that I'm talking about is the
same blue pill the patient is thinking of," Kellerman says.
3.Make Another List -- of Questions: "Write down what you
want to talk to the doctor about," Kellerman says, "and
prioritize." Frankel suggests letting your doctor know from the get-go if
you have more than one concern and indicating which one is your top priority.
Clancy suggests checking the AHRQ Web site for
its question-builder feature (click "Questions Are the Answer" under
"Consumers & Patients").
4.And Don't Be Shy About Asking Them: Asking questions "sounds
easy," Clancy says, "but people don't do it very often," citing a
study showing that the average patient asks only 1.4 questions per office visit
-- including inquiries about parking. "If the doctor has a stethoscope in
his ears, it's not the best time," Kellerman says. "Otherwise, it's
open season."
5.Put It on Record: "If you have made a list of questions
or concerns, ask politely to make that list a part of your permanent
record," advises Frankel. "That makes it more or less a legal
document, leaving no question as to whether you and the doctor talked about that
stuff or not. It's a parallel process to the doctor's making written
notations," he notes.
6.Take Notes: Write down the things you and your doctor discuss,
making sure you understand what the doctor said. Don't hesitate to ask the
doctor to repeat something, Frankel says, or even to write it down for you.
"We know that there are a lot of medical errors that result from the lack
of checking patients' comprehension," Frankel adds. If the doctor doesn't
check to make sure you've understood, you should.
7.Bring a Friend: A trusted friend or relative can serve as an extra
pair of ears in the doctor's office, Kellerman notes. "Particularly when a
patient is older or if you expect something complicated, or bad news, it's
helpful to have a spouse, son or daughter -- someone you trust with confidential
information" -- join you. "Oftentimes they come up with questions you
don't think of in these stressful times," Kellerman adds.
8.Be Wary of Online Health Info: Not all health information on the
Internet is reliable, Kellerman cautions. "Talk to your doctor about which
Web sites they feel comfortable with. Some have their own Web sites with links
to other sites they've checked themselves," he says. Start with the AAFP
site.
9.Track Down Test Results: "If you have a test, procedure
or operation, be sure you know what happens" during that procedure, Clancy
says. "I've had patients who have had hysterectomies but don't know whether
their ovaries were removed." That information has important implications
for a woman's health, she says. Don't count on your doctor to give you the
details, she cautions, as sometimes such communication slips through the cracks;
be prepared to ask.
10.Keep a Symptom Diary: "If you've been having symptoms
on and off, and that's part of why you've made the appointment, it helps to have
some kind of diary or record" of when those symptoms occurred, Clancy says.
And don't worry about looking like a hypochondriac, she says; the doctor will
appreciate the data and can help you sift the worrisome symptoms from the less
important ones.
11.Offer Feedback: "It is our responsibility as citizens
to provide feedback" to our doctors, "even if it's a difficult
situation," Frankel says. "Be prepared to say, 'Gee, this isn't what I
expected; it hasn't gone well,' " if need be, he suggests. "If you
have trouble buying an airline ticket, you don't hesitate a nanosecond before
saying, 'Can I speak to your supervisor?' But that doesn't often happen in a
medical situation." For the most part, Frankel says, "physicians are
very open to feedback."
A new Sickle Cell PSA running in Connecticut
See the video on Youtube at http://www.youtube.com/watch?v=Ttt9h81H_sc
In a Lifetime of Sickle Cell, the Evolution of a
Disease
Most sickle cell anemia
patients do not live long enough to span generations of doctors. But Gladys
Jacobs was around when I was a medical resident in the 1980s, and she is around
now. Her career — as a patient and an activist — demonstrates how the
understanding of sickle cell disease has changed.
Gladys’s condition was initially misdiagnosed, as was all too common for
sickle cell cases in the early ’60s. It was not until then, as the historian
Keith Wailoo writes in “Dying in the City of the Blues” (University
of North Carolina Press, 2001), that the disease “found its way into the
public consciousness.”
When Gladys went to doctors complaining of joint aches, which were the common
painful crises characteristic of sickle cell disease, she was met with
skepticism. Doctors, she recalls, called her a faker. http://www.nytimes.com/2007/10/09/health/09essa.html?_r=1&ref=health&oref=slogin
RUTGERS HISTORIAN KEITH WAILOO ELECTED TO INSTITUTE OF MEDICINE
New Brunswick, N.J. – Keith Wailoo, Martin Luther King Professor of History at Rutgers University, has been elected to the Institute of Medicine, one of four learned academies that advise the government on scientific matters.
Wailoo, a historian of health and medicine, has helped shape new understandings of disease, politics and culture in America. He is the seventh Rutgers professor and the second historian from Rutgers to be elected to the institute.
Wailoo is a member of Rutgers’ Institute for Health, Health Care Policy and Aging Research and is founding director of the Center for Race and Ethnicity at Rutgers. Wailoo’s award-winning books, such as Dying in the City of the Blues: Sickle Cell Anemia and the Politics of Race and Health (University of North Carolina Press, 2001), have earned accolades for “elucidating questions of racial justice and inequality, and promoting human understanding.” Other major works on such topics as the impact of genetic medicine and new technology in American society include The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in
Tay-Sachs, Cystic Fibrosis, Sickle Cell Disease (Johns Hopkins University Press, 2006); and Drawing Blood: Technology and Disease Identity in Twentieth-Century America (Johns Hopkins University Press, 1997).
Wailoo is one of 65 new members of the Institute of Medicine (IOM). Like the other three national learned academies – the National Academy of Sciences, the National Research
September 2007
We Need To Make
Preventing and Curing Sickle Cell Disease A National Priority
By Senators Thomas R. Carper (D-DE) and Benjamin L.
Cardin (D-MD)
In
recent years, a lot of attention has focused on a few debilitating diseases that
affect millions of Americans. Coordinated public and private efforts
-- including targeted biomedical research, awareness campaigns, and patient
advocacy -- have enabled us to make remarkable progress toward conquering many
of these diseases.
But
other, less prevalent diseases that are just as serious have received scant
attention. Sickle cell disease – a devastating genetic
disorder that affects red blood cells -- is such a disease, and greater
awareness and more resources are required if we are to defeat it.
September
is National Sickle Cell Awareness Month, and many Americans have never heard of
the disease or know little about it. They are unaware that this disease
– which creates oxygen-depleted red blood cells that become
“sickle”-shaped and block small blood vessels – causes pain so severe that
a flare up is often referred to as a “crisis.” These sickle cell
“crises” can lead to stroke, organ failure, and death.
Experts
estimate that between 70,000 and 80,000 Americans have sickle cell disease, and
more than 1,300 babies are born with the condition each year. Although
sickle cell disease is rare, it is by far the most common genetic blood disorder
in this country.
Unfortunately,
the treatment of sickle cell disease has been hampered by too few resources and
lack of information.
Health
care providers must be familiar with the symptoms of sickle cell and be able to
properly diagnose and treat the disease – especially in hospital emergency
departments where patients frequently seek treatment during a pain crisis.
However, too many health care professionals have not received in-depth training
about sickle cell disease.
In
Delaware
, for example, the
Alfred
I.
duPont
Hospital
for Children is the only hospital in the state that serves the pediatric sickle
cell population. In
Maryland
, Johns Hopkins houses the state’s only clinic dedicated specifically to the
medical care of adults with sickle cell. There needs to be greater
availability of comprehensive health care services for both children and
adults suffering from sickle cell disease.
The lack of public information about the disease is also a
problem. Although virtually every state in
America
has screened newborns for sickle cell since 1986, most adults do not know their
sickle cell trait status. Individuals with the sickle cell trait do
not have the disease, but they carry a gene that increases their children's
chances of having it. In cases where both parents have the sickle
cell trait, there is a 1 in 4 chance – with each pregnancy –
that their child will have sickle cell disease.
Many sickle cell patients also require blood transfusion,
and most patients do best if they can receive blood transfusions from
genetically similar donors. Yet too few individuals of African, Latino,
Mediterranean
, and South Asian heritage – groups with the highest incidence of sickle cell
disease – are aware that they can help sickle cell patients by donating their
blood.
It is difficult to outline a complete list of challenges with respect to
sickle cell disease without addressing the issue of money. The reality is
that treatment, prevention and advocacy efforts all require funding. Both
public and private funding is needed to provide the resources for fighting this
disease.
According
to a 2006 Pediatrics article, only $1,000 per patient per year is spent on
sickle cell disease research. This
pales in comparison to the $9,000 per patient that has been raised for other
diseases, like cystic fibrosis. The
largest disparity was not in federal funding; rather, it was in private funding
– an indication the public is still largely unaware of the disease.
Research supported by the National Institutes of Health (NIH)
has led to the development of more effective newborn screening tools, the
identification of blood transfusion as a way to reduce the risk of strokes, and
an FDA-approved treatment that aids in the prevention of painful sickle cell
episodes.
Scientists believe that we are on the cusp of developing more accurate
screening tools for sickle cell disease, personalizing therapies according to
individuals’ profiles, and discovering actual preventions.
We must build on the steps taken in previous Congresses and ensure that
the NIH has the resources to build on promising sickle cell research projects.
During National Sickle Cell Awareness Month, we should
begin to bridge the gap between need and results. It is time to promote
increased attention to sickle cell disease in our nation’s medical schools and
academic medical centers so that health professionals are trained appropriately
to diagnose and treat sickle cell patients. We also need to put our money where
it will get the best results – into more research and education about this
devastating disease.
A New National and Global Consumer Organization: The International Sickle Cell Alliance (TISCA)
The inaugural meeting of “The International Sickle Cell Alliance” (TISCA) will take place immediately following the Lonzie Lee Jones Patient Advocacy session on Wednesday September 19, 2007, from 5:30PM-6:15PM. Please see the information below and look for more details at the conference.
The International Sickle Cell Alliance (TISCA) is a coalition of national and international sickle cell advocacy groups. The organization will work to transform leadership in the sickle cell community to build capacity in advocacy organizations and to educate policymakers by leveraging the voices of individuals and families.
Mission: To increase the capacity of sickle cell parent and patient organizations to achieve their missions and leverage the voices of individuals and families living with sickle cell conditions on the national and global level.
TISCA appreciates and welcomes collaboration with providers, academia, industry, private entities, and policymakers in achieving its goals. These collaborations will augment the activities of existing organizations to accelerate translational research, technologies; promote qua
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1.67
represents an impaired response or endothelial dysfunction. Only
patients with HbSS and HbSC disease and at least 15 years of age were
enrolled. Patients were excluded if they: were on chronic
hypertransfusion; had sickle cell crisis within 30 days of screening;
had a history of bone marrow or stem cell transplant or were on
hydroxyurea (HU) therapy during the 3 months prior to screening.
Thirty-two African-American subjects, mean age 29 years (41% male)
were sequentially treated for 4 weeks each with 6R-BH4
at 2.5, 5, 10, and 20 mg/kg/day at 12 US sites. Nine subjects
discontinued therapy for various reasons including loss of follow up
and pregnancy. Twenty-seven subjects had baseline PAT scores and the
number of subjects with PAT scores varied at each treatment dose.