Abstract Details

Title The Dystonia Coalition Natural History Project: Nine Years of Progress

Topic Movement Disorders

Presentation(s) P4 - Poster Session 4 (5:30 PM-6:30 PM)

Poster/Presentation
Number 10-004

Objective This collaborative, international effort has one primary goal: create a biospecimen repository and associated clinical database to be used as a resource for dystonia research. Across sites, investigators hope to enroll at least 5,000 adult patients.

Background Isolated, idiopathic dystonia has no known cause. Isolated dystonias are the most common type of dystonia, including limb (e.g. writer's cramp), cervical (spasmodic torticollis), laryngeal (spasmodic dysphonia), and craniofacial (e.g. blepharospasm). Clinical research is challenging due to limited access of large numbers of participants with standardized evaluations.

Design/Methods 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 are asked to complete a standardized intake neurological exam (video recorded), questionnaires, and blood sample donation. Similar follow-up data is collected at 1-4 year intervals.

Results In nine years of data collection, the Dystonia Coalition Natural History project has enrolled over 3000 individual participants with 853 follow-up visits. Of those enrolled, dystonia site of onset was cranial (923, 25%), cervical (1789, 49%), laryngeal (362, 10%), and limb (584, 16%). At enrollment, subjects have focal (71%), segmental (19%), multifocal (5%) or generalized (4%) dystonia. All enrolled subjects have accessible data and videos; 98% have DNA on repository.

Conclusions 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.

Authors/Disclosures
Scott Norris, MD (Washington University School of Medicine) PRESENTER	The institution of Dr. Norris has received research support from NIH, DMRF, Dysphonia International.
Joel S. Perlmutter, MD, FAAN (Washington University in St. Louis)	Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for CHDI. Dr. Perlmutter has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Parkinson Study Group. Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Wood, Cooper and Peterson, LLC . Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Simmons and Simmons LLP . The institution of Dr. Perlmutter has received research support from NIH. The institution of Dr. Perlmutter has received research support from American Parkinson Disease Association (Advanced Research Center at Washington University). The institution of Dr. Perlmutter has received research support from CHDI. The institution of Dr. Perlmutter has received research support from Huntington Disease Society of America. The institution of Dr. Perlmutter has received research support from University of Western Toronto. The institution of Dr. Perlmutter has received research support from Barnes-Jewish Hospital Foundation. The institution of Dr. Perlmutter has received research support from Michael J Fox Foundation. The institution of Dr. Perlmutter has received research support from UCSD. The institution of Dr. Perlmutter has received research support from Paula & Rodger Riney FUnd. The institution of Dr. Perlmutter has received research support from Jo Oertli Fund. The institution of Dr. Perlmutter has received research support from Murphy FUnd. The institution of Dr. Perlmutter has received research support from Fixel Fund. The institution of Dr. Perlmutter has received research support from N Grant WIlliams Fund. The institution of Dr. Perlmutter has received research support from Pohlman Fund. Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as a lecturer with Boston University. Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as a external advisor with Stanford University. Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as a visiting professor with Beth Israel Hospital. Dr. Perlmutter has received personal compensation in the range of $500-$4,999 for serving as a visiting professor with U Pennsylvania.
	No disclosure on file
	No disclosure on file
	No disclosure on file
H. A. Jinnah, MD, PhD, FAAN (Emory University)	Dr. Jinnah has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takaha/Ene. Dr. Jinnah has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Ipsen. Dr. Jinnah has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ipsen. Dr. Jinnah has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Abbvie. The institution of Dr. Jinnah has received research support from Addex. The institution of Dr. Jinnah has received research support from Aeon. The institution of Dr. Jinnah has received research support from Revance. The institution of Dr. Jinnah has received research support from Jazz.

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