The Rare Disease Act of 2002 (P.L. 107-280) directed the NIH Office of Rare Diseases Research (ORDR) to establish a Rare Diseases Clinical Research Network (RDCRN)—a collaborative, cooperative network of investigators and patient groups in partnership with technology leaders that focuses on studying rare diseases to enhance communication and resource sharing via a multidisciplinary approach.
The resulting RDCRC program collects clinical information to develop biomarkers and new approaches to diagnosis, prevention, and treatment; provides content for a web-based resource about rare diseases; trains new clinical investigators in rare diseases research; supports a comprehensive and integrated approach to data collection, storage, and management, and integrates clinical data with other unique data, including genetic, imaging, pathologic, and laboratory data through the Data Management and Coordinating Center (DMCC).
The first competition for the RDCRC in 2003 established eight funded consortia using the U54 mechanism, and the program subsequently expanded to 10 centers. At the time, the IDDB provided scientific management for two Consortia (Angelman, Rett, and Prader-Willi Syndromes Consortium and Urea Cycle Disorders) and their affiliate sites that have made significant progress and research contributions within the field of rare diseases research.
Recompetition of the entire program occurred in 2009 with a total of 19 consortia funded. The two IDDB-supported Consortia successfully recompeted, with the addition of consortia to study Sterol and Isoprenoid Research Consortium as well as the North American Mitochondrial Disease Consortium (NAMDC) with the National Institute of Neurological Diseases and Stroke.
In 2014, the entire program was recompeted under the auspices of the National Center for Advancing Translational Sciences (NCATS), the new home for ORDR, with a total of 22 consortia receiving funding to study more than 200 rare diseases in collaboration with 98 patient advocacy groups. In partnership with NCATS and other Institutes at NIH, NICHD supports the multiple consortia.
All the RDCRCs, including those supported by the NICHD, rely on a DMCC for a shared data management system, uniform investigative clinical research protocols, and standard adverse event reporting protocols. The DMCC has created and developed the systems, processes and procedures needed to enroll more than 24,000 participants in 128 studies in the first decade of the RDCRN. The DMCC also maintains a common patient registry with a wide array of rare diseases. The direct involvement of patient advocacy groups in operations, activities, and strategy is also a major feature of the Network program.
For information about NICHD-supported Consortia, visit http://www.nichd.nih.gov/research/supported/Pages/rare_disease_cons.aspx.