NIH network addresses research needs in rare disorders
By Wendy R. Galpern, MD, PhD
Program Director, Clinical Trials
NINDS / NIH
Many of the disorders which are routinely seen in a typical movement disorders clinic are in fact rare diseases, affecting less than 200,000 patients in the United States. It is often the case that there are few effective therapies for many of these disorders, and clinical research in these areas can be quite challenging due not only to limited patient numbers but also limited natural history and epidemiology data.
In order to directly address the research needs in rare disorders, the Office of Rare Disease Research (ORDR) of the National Institutes of Health (NIH) initiated the Rare Diseases Clinical Research Network (RDCRN; http://rarediseasesnetwork.epi.usf.edu/index.htm) in 2003 in collaboration with the NIH Institutes and Centers, including the National Institute of Neurological Disorders and Stroke (NINDS). The objectives of the RDCRN are to provide a specialized infrastructure to support research in the rare diseases and to promote collaboration across centers in order to advance our understanding of rare diseases and advance therapeutic development. An integral component of the RDCRN is the Data Management Coordinating Center (DMCC) at the University of South Florida in Tampa which facilitates study operations. In addition, each consortium collaborates with patient advocacy groups at the consortium and network level and has a major component related to the training of new clinical research investigators.
The RDCRN was expanded in October 2009 and now includes 19 research consortia, four of which have studies focused on various movement disorders including ataxia, dystonia, multiple system atrophy, and episodic ataxia. As detailed in the accompanying sections, these studies are aimed at exploring many components of these disorders including natural history, epidemiology, genetics, diagnosis, and treatment. Additionally, each consortium has a contact registry established through the DMCC which may be of interest to your patients.
As you see patients in your clinics affected by these rare disorders, we hope you will inform them of these ongoing research efforts and refer them to participating centers as appropriate.
Clinical Research Network for Episodic Ataxia: The Episodic Ataxia Registry
Clinical Research Network for Multiple System Atrophy and Other Autonomic Disorders: The Autonomic Disorders Consortium
Clinical Research Network for Dystonia: The Dystonia Coalition
Clinical Research Network for Spinocerebellar Ataxias: The Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA)