Objective: The purpose of this collaborative, international effort is to provide an available resource containing clinical and video data along with biospecimens for dystonia research.

Background: Isolated dystonias are the most common type of dystonia, including craniofacial (e.g. blepharospasm), cervical (spasmodic torticollis), laryngeal (spasmodic dysphonia), and limb (e.g. writer’s cramp) dystonia. Clinical research will be enhanced with access to large numbers of participants with standardized evaluations.

Method: Emory University acts as the administrative core. The Dystonia Medical Research Foundation contracts 37 recruiting sites in North America, Australia and Europe. Patient advocacy groups assist in promotion and enrollment. Washington University is the clinical core, providing data entry, error checking, public access to limited data, and full access for research. The single data management and coordinating center maintains and distributes data for researchers that have applied for access. All enrolled subjects have secured video available for streaming via permission based access. NINDS resources at Coriell hold and distribute DNA samples. Enrolled subjects complete a standardized intake neurological exam (video recorded), questionnaires, and blood sample donation. Follow-up data are collected at 1-4 year intervals.

Results: In eleven years of data collection, the Dystonia Coalition Natural History project has enrolled over 3400 individual participants with 1092 follow-up visits. Of those enrolled, dystonia site of onset was cranial (1004, 29%), cervical (1874, 55%), laryngeal (357, 10%), and limb (719, 21%). Some have more than one site of onset. At enrollment, subjects have focal (68%), segmental (21%), multifocal (6%) or generalized (4%) dystonia. All enrolled subjects have accessible data and videos; 99% have DNA on repository. More than 100 papers have been published.

Conclusion: The dystonia coalition is an effective international consortium across universities, patient advocacy groups, and the NIH. Available data and samples leads to utilization and advances in dystonia research.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-dystonia-coalition-natural-history-project-an-available-research-resource/