National Institutes of Health Fact Sheet Rare Diseases ...
Published on: Mar 3, 2016
Transcripts - National Institutes of Health Fact Sheet Rare Diseases ...
National Institutes of Health
Fact Sheet Rare Diseases Clinical Research Network
• Rare diseases, by definition, are diseases that affect include rare bone marrow failure conditions, genetic
fewer than 200,000 people in the United States. Yet, steroid disorders, thrombotic diseases, lung diseases,
they present a significant health care concern since neurologic and metabolic conditions, and urea cycle
there are over 6,000 rare diseases, affecting more disorders.
than 25 million Americans.
• The DTCC develops and introduces novel
• Patients with rare diseases are frequently technologies for data collection, information sharing,
misdiagnosed or are undiagnosed. and performance of studies. The RDCRN is leading
an effort for the incorporation of standard data
• Few drug companies conduct research into rare elements in rare diseases research with informatics
diseases since it is difficult to recoup the costs of support from the DTCC. These efforts will allow
developing treatments for such small, geographically RDCRN researchers to integrate their data with
dispersed populations. other clinical networks and scientists enabling the
development of new diagnostic tools, treatments,
• To advance medical research on rare diseases, a and preventive strategies.
research network would facilitate collaboration,
enrollment in studies and trials, and sharing of data. • Each consortium in the RDCRN includes active
participation by patient advocacy groups. The
NIH Response RDCRN Coalition of Patient Advocacy Groups
• In response to the Rare Diseases Act of 2002, the (CPAG), which represents more than 30 of these
National Institutes of Health (NIH) established the patient advocacy groups, is instrumental in outreach
Rare Diseases Clinical Research Network (RDCRN) to the affected populations and provides a patient
to address the unique challenges of research on rare perspective to the development of studies.
diseases. • The RDCRN web site
• The RDCRN enables the collaboration of scientists (http://rarediseasesnetwork.epi.usf.edu/) is a key
from multiple disciplines and provides shared access source of information about rare diseases for
to geographically distributed research resources and physicians, investigators, patients, and the public.
patient populations. The site lists all of the studies and the participating
• The RDCRN consists of 10 research consortia (see
listing below) and a central Data and Technology • The RDCRN has developed a unique web-based
Coordinating Center (DTCC). Total NIH funding for contact registry for patients who wish to learn about
the RDCRN, through five-year grants, is $71 their disease and participation in clinical studies.
million.* More information is also available on the NCRR
web site at
• The 10 consortia are conducting more than 20 http://www.ncrr.nih.gov/clinical/cr_rdcrn.asp.
studies at greater than 50 sites in the United States
and other countries. Each consortium studies a group Future
of related rare, and sometimes fatal, diseases. These
Through the coordinated international efforts of RDCRN
*The RDCRN is funded by the NIH Office of Rare Diseases; National Center for Research Resources; 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.
National Institutes of Health Rare Diseases Clinical Research Network – 1
investigators, new approaches to the diagnosis,
treatment, and prevention of rare diseases will reduce the
burden of these diseases.
• The collaboration of physicians, investigators and
patient support groups will be critical in the
dissemination and adoption of research results. By
studying the genetic component of these rare
diseases, better predictions of the course of the
illness and more effective, personalized treatments
may be developed.
• The next generation of rare disease investigators
trained in the RDCRN will ensure that the needs of
families and patients with rare diseases continue to
Children's National Medical Center, Washington, DC —
Urea Cycle Disorders Consortium
Baylor College of Medicine, Houston, TX —
Angelman, Rett, & Prader-Willi Syndromes
Boston University School of Medicine, Boston, MA —
Vasculitis Clinical Research Consortium
Cleveland Clinic Foundation, Cleveland, OH — Bone
Marrow Failure Disease Consortium
Mount Sinai School of Medicine, New York, NY —
Rare Genetic Steroid Disorders Consortium
Children's Hospital Medical Center, Cincinnati, OH —
Rare Lung Diseases Consortium
University of Rochester, Rochester, NY — Consortium
for Clinical Investigations of Neurological
University of North Carolina at Chapel Hill, NC —
Genetic Diseases of Mucociliary Clearance
Childrens Hospital, Denver, CO — Cholestatic Liver
Disease Consortium (CLiC)
Duke University School of Medicine, Durham, NC —
Rare Thrombotic Diseases Consortium
Pediatrics Epidemiology Center, University of South
Florida, Tampa, FL — The Data and Technology
Coordinating Center (DTCC)
National Institutes of Health Rare Diseases Clinical Research Network – 2