NIH Funds Research Consortia to Study More than 200 Rare Diseases

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, MD. “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.”

With the new awards, scientists at the 22 RDCRN consortia will conduct a minimum of two multisite clinical studies, including one longitudinal natural history study for a group of at least three related rare diseases. The RDCRN Data Management and Coordinating Center (DMCC) will continue to support the consortia by providing technologies and tools to collect and analyze standardized clinical research data, as well as supporting study design.

“The real strength of the collaboration among RDCRN consortia is the power to obtain high-quality data,” said Pamela M. McInnes, DDS, acting director of the NCATS Office of Rare Diseases Research and NCATS deputy director. “These data form an important base to better define patient populations, attract industry partners, share information on best practices and advance treatment options for the rare disease patient community.”