(Black PR Wire) The National Institutes of Health (NIH) today announced the
launch of a new initiative to help speed the development of a cure for sickle
cell disease, a group of inherited blood disorders affecting at least 100,000
people in the United States and 20 million worldwide. The Cure Sickle Cell
Initiative will take advantage of the latest genetic discoveries and
technological advances to move the most promising genetic-based curative
therapies safely into clinical trials within five to 10 years.
“Our scientific investments have brought us to a
point where we have many tools available to correct or
compensate for the defective gene that causes sickle cell disease. We are now
ready to use these tools to speed up our quest for a cure,” said Gary
H. Gibbons, M.D., director of NIH’s National Heart, Lung, and Blood Institute
(NHLBI), which is leading the effort.
disease results from a single genetic mutation that causes a person’s red blood
cells to form an abnormal, sickle shape. These sickled cells can clog the blood
vessels and deprive cells of oxygen. In turn, this lack of oxygen wreaks havoc
on the body, damaging organs, causing severe pain, and potentially leading to
Decades of basic research on sickle cell disease have laid the groundwork
for novel genetic approaches to cures, such as the genetic editing of bone
marrow cells, which have shown great promise in animal models and in some small
scale human studies. In addition, the NHLBI Production Assistance for Cellular Therapies (PACT) program has been
working with researchers to manufacture cellular therapeutic products,
including genetically modified cells, that can be used safely in clinical
trials with patients.
NIH spends approximately $100 million on sickle cell disease research
each year. Through this initiative, NHLBI seeks to support the development of
cell and genetic therapies resources, clinical trials, comparator analyses of
different management strategies, data repositories and resources, and patient
and advocate engagement activities related to curative therapies for this
condition. Already in 2018, NHLBI committed an additional $7 million to
jumpstart the initiative’s research and engagement infrastructure.
named hematologist Edward J. Benz Jr., M.D., President and CEO Emeritus of
Dana-Farber Cancer Institute, as the Initiative’s executive director, and the
Emmes Corporation, a contract research organization with specialized expertise
in clinical trials, gene and cell therapy development in preclinical studies,
as its coordinating center.
initiative and other research partners will establish a national data warehouse
of genetic therapies for sickle cell disease and conduct comparative
analyses of therapeutic approaches to assess both clinical and cost
They will also establish national networks to make it easier for patients and
providers to learn and engage with the research, clinical trials, and other
activities happening across the country.
engagement of patients will be a cornerstone of this effort,” said Benz.
“Patients will work alongside researchers in developing and recruiting for
the only cure for sickle cell disease is a bone marrow transplant, a procedure
in which a sick patient receives bone marrow from a healthy,
genetically-compatible sibling donor. However, transplants are too risky for
many adults, and only about 18 percent of children with sickle cell disease
have a healthy, matched sibling donor.
Sickle Cell Initiative seeks to develop cures for a far broader group of
individuals with the disease, and it is initially focusing on gene therapies
that modify the patient’s own hematopoietic stem cells (HSCs), which make red
and other blood cells. These modified HSCs can then be given back to the
patient via a bone marrow transplant, making a cure available to more patients
who lack a matched donor.
“This initiative is giving patients, families, and
communities a reason for hope. I’m particularly pleased that we are able to
make this announcement during Sickle Cell Awareness month, when we are shining
a spotlight on the toll of this devastating disease,” said ADM Brett Giroir,
M.D. Assistant Secretary for Health at the U.S. Department of Health and Human
This patient-focused Initiative builds on the
legacy of NHLBI-supported research that has contributed to improving clinical
care for patients who have sickle cell disease. It also complements the
Institute’s broader sickle cell disease research investment, which includes
basic, clinical, translational, and implementation science research.