Physician scientists at 22 consortia will collaborate with representatives of 98 patient advocacy groups to advance clinical research and investigate new treatments for patients with rare diseases. The collaborations are made possible through awards by the National Institutes of Health — totaling about $29 million in fiscal year 2014 funding — to expand the Rare Diseases Clinical Research Network (RDCRN), which is led by NIH’s National Center for Advancing Translational Sciences (NCATS).
There are several thousand rare diseases, of which only a few hundred have any treatments available. Combined, rare diseases affect an estimated 25 million Americans. Some obstacles to developing rare disease treatments include difficulties in diagnosis, widely dispersed patients and scientific experts, a perception of high risk, and a lack of data from natural history studies, which follow a group of people with a specific medical condition over time.
“NCATS seeks to tackle these challenges in an integrated way by working to identify common elements among rare diseases,” said NCATS Director Christopher P. Austin, M.D. “The RDCRN consortia provide a robust data source that enables scientists to better understand and share these commonalities, ultimately allowing us to accelerate the development of new approaches for diagnosing and treating rare diseases.”
Many patients with rare diseases often struggle to obtain an accurate diagnosis and find the right treatments. In numerous cases, RDCRN consortia have become centers of excellence for diagnosing and monitoring diseases that few clinicians see on a regular basis.
The RDCRN was established in 2003 by the NIH Office of Rare Diseases. NCATS now oversees the program, which is designed to advance medical research on rare diseases by facilitating collaboration, study enrollment and data sharing. Since the program’s launch, nearly 29,000 participants have been enrolled in network clinical studies. Currently, the network is composed of about 2,600 researchers, including NIH scientific program staff, academic investigators and members of 98 patient advocacy groups. Ninety-one studies are underway.
The network has enabled many translational research successes, including advances at the Urea Cycle Disorders Consortium at Children’s National Medical Center in Washington, D.C. The consortium contributed to the development and U.S. Food and Drug Administration approval of three drugs to treat urea cycle disorders. Patients with these disorders have a severe deficiency or are missing one or more of the first four enzymes in the urea cycle. These enzymes help regulate the body’s ability to break down ammonia and other undesirable products.