NIH Launches Clinical Studies Nationwide to Investigate Rare
Diseases
$71 Million Effort to Address Neglected Conditions
The National Institutes of Health (NIH) announced today it is launching the
first clinical studies of its Rare Diseases Clinical Research Network (RDCRN).
More than 20 studies are expected to open in the next few months at about 50
sites across the United States and in several other countries including the United
Kingdom, Japan, and Brazil.
Rare Diseases 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.
NCRR provides laboratory scientists and clinical researchers with the environments
and tools they need to understand, detect, treat, and prevent a wide range
of diseases. This support enables discoveries that begin at a molecular and
cellular level, move to animal-based studies, and then are translated to patient-oriented
clinical research, resulting in cures and treatments for both common and rare
diseases. NCRR connects researchers with one another and with patients and
communities across the nation to harness the power of shared resources and
research. For more information, visit www.ncrr.nih.gov.
The National Institutes of Health (NIH) — The Nation's Medical Research
Agency — includes 27 Institutes and Centers and is a component of
the U.S. Department of Health and Human Services. It is the primary federal
agency for conducting and supporting basic, clinical and translational medical
research, and it investigates the causes, treatments, and cures for both common
and rare diseases. For more information about NIH and its programs, visit www.nih.gov. |