The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias (DCP)

Emory University

Status

Completed

Conditions

Dystonia

Study type

Observational

Funder types

Other

Industry

NIH

Identifiers

NCT01373424

U54NS065701 (U.S. NIH Grant/Contract)

U54TR001456 (U.S. NIH Grant/Contract)

IRB00046266

RDCRN#6301 (Other Identifier)

Details and patient eligibility

About

Dystonia is a disorder characterized by excessive involuntary contraction of muscles with repetitive and patterned movements. The isolated dystonias are the most common type of dystonia and include Limb dystonias (like writer's cramp), Cervical dystonia (spasmodic torticollis), Laryngeal dystonias (like spasmodic dysphonia), and Craniofacial dystonias (like blepharospasm). The purpose of this study is to create resources to help learn more about the isolated dystonias, myoclonus dystonia, and dopa-responsive dystonia and to develop and validate various dystonia rating scales.

Full description

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

Subjects of this study will be asked to complete a neurological exam which will be video recorded, complete some questionnaires, and donate a blood sample. A study visit will take between 45 minutes and 1 hour. All subjects will be asked to return every 1, 2, 3, or 4 years for a one hour follow-up visit. People may participate in this study without agreeing to participate in the follow-up visits.

Enrollment

3,265 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Diagnosed with isolated dystonia or myoclonus dystonia or dopa-responsive dystonia
To be included in laryngeal dystonia group, nasolaryngoscopy (voice box exam) must have been completed to confirm diagnosis (this voice box exam is not part of the study)

Exclusion criteria

Any evidence of a secondary cause for dystonia (other than myoclonus dystonia or dopa-responsive dystonia)
Less than 2 months since last botulinum toxin injection
Inability to provide informed consent
Significant medical or neurological conditions that preclude completing the neurological exam
Significant physical or other condition that would confound diagnosis or evaluation, other than dystonia or tremor