NIH
Launches Clinical Studies Nationwide
to Investigate Rare Diseases
$71 Million Effort to Address Neglected Conditions
The
National Institutes of Health (NIH) has launched
the first clinical studies of its Rare Diseases
Clinical Research Network (RDCRN). More than 20 studies are
underway at some 50 sites across the United States
and in several other countries
including
the United Kingdom, Japan, and Brazil.
Initial RDCRN Studies Listed by City:
http://www.ncrr.nih.gov/clinical/rdcrn_studylist.asp
Officially, a rare disease is defined as a disease or condition
affecting fewer than 200,000 persons in the United States.
About 6,000 such disorders have been identified, impacting
an estimated 25 million Americans. Few drug companies conduct
research into rare diseases since there is little chance to
recoup the costs of developing treatments for such small, geographically
dispersed populations.
“By studying the genetic component of these rare diseases,
we hope to be able to better predict the course of the illnesses
and provide more effective, personalized treatments for those
afflicted,” said Elias A. Zerhouni, M.D., NIH Director. “Ultimately,
this individualized approach, completely different from how
we treat patients today, will allow us to prevent or to promptly
treat the complications arising from these genetic disorders.”
The
RDCRN has received five-year funding awards totaling $71
million and is coordinated primarily by two
NIH components—the
Office of Rare Diseases (ORD) and the National Center for Research
Resources (NCRR). A central data and technology coordinating
center and 10 research consortia will investigate a variety
of diseases including Angelman, Rett, Prader-Willi syndromes;
myelodysplastic syndrome and other bone marrow failure conditions;
lymphangioleiomyomatosis (LAM), rare genetic disorders of the
airways, and other rare lung diseases; episodic ataxia, Andersen-Tawil
syndrome, and nondystrophic myotonias; several vasculitides;
urea cycle disorders; antiphospholipid syndrome and other rare
thrombotic diseases; rare pediatric liver diseases; and rare
genetic steroid defects.
"Increased collaboration among researchers investigating
rare diseases will not only lead to discoveries that will help
prevent and treat these conditions, but may also produce medical
advances that will benefit the population in general,” said
Stephen Groft, Pharm.D., Director of NIH's Office of Rare Diseases.
The initiative includes interventional trials to test new
therapies or drugs, as well as longitudinal or natural history
studies that will provide information about the characteristics
of rare diseases and their progression over time. Data collection
standards have been established for the research projects and
the data produced will be made publicly available with appropriate
safeguards for patient confidentiality.
“This network was created to share the experience, approaches,
and tools for the study of rare diseases and to train the next
generation of investigators,” said Barbara M. Alving,
M.D., NCRR’s Acting Director. “The adoption of
standards and common data elements across diseases is groundbreaking,
promotes cross-disease analysis, and provides a rich source
of information to be mined by researchers around the world.”
Each consortium in the network includes active participation
by the relevant patient advocacy groups. In addition, the Coalition
of Patient Advocacy Groups (CPAG) was created to represent
the more than 30 patient advocacy groups involved in the network.
CPAG has been instrumental in outreach to the affected populations
and gaining their input into the development of studies.
“In forming this coalition of rare disease groups, NIH
has created a powerful vehicle for us to collaborate and communicate
with one another that has already brought dividends,” said
Patrick Cochran, CPAG Chair and founder of the Periodic Paralysis
Association. “Not only have we been able to share information
and learn from each other, by working together we have also
secured additional support from foundations and corporations.”
The
RDCRN is funded by the ORD; NCRR; National Heart, Lung and
Blood Institute; National Institute of Child
Health and
Human Development; National Institute of Neurological Disorders
and Stroke; National Institute of Arthritis and Musculoskeletal
and Skin Diseases; and National Institute of Diabetes and Digestive
and Kidney Diseases—all components of NIH—an agency
of the Department of Health and Human Services.
For more information about the RDCRN, please visit: http://www.ncrr.nih.gov/clinical/cr_rdcrn.asp
