Objective: To describe the available data & biorepository samples that are available to share

Background: The Dystonia Coalition (DC) is a multi-site research program of the Rare Diseases Clinical Research Network (RDCRN) supported by NIH (NINDS/NCATS) that collects natural history data and blood samples from people with isolated, idiopathic dystonia. The DC includes researchers and Patient Advocacy Groups and provides data and samples to investigators regardless of membership in the DC. Over 220 manuscripts have been published in the past 15 years.

Method: Data includes demographic, medical and family history data, rating scales (motor & non-motor domains), standardized videos and blood for DNA, RNA and plasma.  All de-identified data are entered into a database, and videos are uploaded to a secure video repository. De-identified data are sent to the Data Management and Coordinating Center (DMCC) of the RDCRN. Biosamples go to a central biorepository and to the NINDS Repository at Coriell. Quality checks are done on all data, videos and samples. A public facing website permits quick high level view of the data: https://publicdatacatalog.rarediseasesnetwork.org/. To obtain granular DC data, videos, or samples an investigator must complete a DC Data Request and Agreement Form that can be requested from and sent to [email protected]. The form should include a research plan and justify use of data and/or samples requested. Requesters must agree to acknowledge DC in publications and share results with the DC and DMCC. IRB approval must be obtained before DC releases any data or samples.

Results: DC includes more than 60 sites in the United States, Canada, Europe, Asia, and Australia.  As of January 31, 2025, the project includes data from 3876 individuals and 1567 follow up visits. This includes 2674 people with cervical dystonia, 1055 with blepharospasm, 720 with laryngeal dystonia and 1175 with distal limb dystonia.  Many participants have more than one affected body part so the listed total will add to more than the total number of individuals. We have DNA from 3588, RNA from 723 and plasma from 801 cases. More than 99% of cases have videos.

Conclusion: DC’s data and sample sharing policy and collaborative approach has led to worldwide collaborations producing more than 220 publications, contributing to better understanding of the dystonias. We encourage all interested investigators to access DC data and samples.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-dystonia-coalition-natural-history-biorepository-projects-update/