The National Ataxia Foundation Awards The National Ataxia Database
The National Ataxia Foundation (NAF) has announced that Dr. Susan Perlman was recently awarded a Research Grant to build a web-based National Ataxia Database (NAD). Susan Perlman is a professor in the Department of Neurology at the David Geffen School of Medicine at UCLA and a neurologist specialized in ataxias, Huntington’s disease and Neuro Genetics.
Ataxias are a complex group of diseases causing neurodegeneration in the cerebellum and spinal cord, which are required for motor coordination. The main symptoms of ataxias are gait disturbance and imbalance. Spinocerebellar ataxia (SCA) is a form of genetically inherited ataxia, with underlying mutations localized in different regions of the genome, with at least 29 different mutations already mapped and cloned.
One of the problems in developing therapeutic approaches for these rare diseases is the lack of systematic clinical information, a difficulty that can be somewhat mitigated by the use of databases. Five prior founded NAF grants (2001, 2004, 2005, 2007 and 2012) were used to develop and maintain the web-based NAD. The database includes specific genes that affect cerebellar function and cause disease; new causes of ataxia (genetic and non-genetic); and treatment trials for different types of ataxia.
Dr. Perlman’s platform provides support and joins specialists in clinical care and clinical research of ataxia. NAD is currently made accessible on the web to UCLA Ataxia Clinic and Ataxia Clinic at Johns Hopkins University, though other researchers have expressed interest in using it as well. Ultimately, it will be accessed by all members of the Ataxia Clinical Research Consortium in future collaborations of clinical research and to set standards for clinical care.
NAD also includes clinical data of the Clinical Research Network for Spinocerebellar Ataxias (CRC-SCA), supported by the NIH Rare Disease Clinical Research Network. Now, this research grant will allow researchers to continue importing the generated clinical data of different SCA types into this database.
There are presently 13 registered sites contributing to this project. Over 300 subjects have been enrolled and are pursuing serial examinations and banking of specimens. Furthermore, NAD will also allow ataxia researchers to include other clinical data collected by either individual researchers or consortiums.