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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT01373424
Recruitment Status : Recruiting
First Posted : June 15, 2011
Last Update Posted : August 2, 2017
National Institute of Neurological Disorders and Stroke (NINDS)
Office of Rare Diseases (ORD)
Dystonia Study Group
Information provided by (Responsible Party):
Hyder A. Jinnah, MD, PhD, Emory University

June 2, 2011
June 15, 2011
August 2, 2017
January 2011
June 2018   (Final data collection date for primary outcome measure)
Observational [ Time Frame: 7 years ]
There is no primary outcome measure as this is an observational study.
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Complete list of historical versions of study NCT01373424 on Archive Site
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The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias
Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia
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.

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.

Observational Model: Other
Time Perspective: Other
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Retention:   Samples With DNA
Whole blood, DNA, white blood cells, cell lines
Non-Probability Sample
People with dystonia are eligible to participate as long as they are above age 18 and fit the eligibility criteria. The coordinator at the site you contact can tell you more about this.
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  • Cervical dystonia
    People diagnosed with cervical dystonia
  • Laryngeal dystonia
    People diagnosed with laryngeal dystonia
  • Other voice disorders
    People diagnosed with a voice disorder other than laryngeal dystonia - enrollment for this group is complete
  • Craniofacial dystonia
    People diagnosed with craniofacial dystonia (including blepharospasm, meige syndrome, and oromandibular dystonia)
  • Limb dystonia
    People diagnosed with limb dystonia
  • All other isolated dystonias
    People diagnosed with any isolated dystonia not listed in descriptions of other cohorts
  • Myoclonus dystonia
    People diagnosed with myoclonus dystonia
  • Dopa-responsive dystonia
    People diagnosed with dopa-responsive dystonia
Patel N, Hanfelt J, Marsh L, Jankovic J; members of the Dystonia Coalition. Alleviating manoeuvres (sensory tricks) in cervical dystonia. J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):882-4. doi: 10.1136/jnnp-2013-307316. Epub 2014 May 14.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
August 2019
June 2018   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
18 Years and older   (Adult, Older Adult)
Contact: Adam Kassem 404-727-3381
Australia,   Canada,   France,   Germany,   Italy,   United Kingdom,   United States
U54TR001456 ( U.S. NIH Grant/Contract )
RDCRN#6301 ( Other Identifier: Other )
U54NS065701 ( U.S. NIH Grant/Contract )
Not Provided
Plan to Share IPD: Yes
Plan Description: Data is available to researchers with appropriate ethics board approvals. Researchers may contact the Dystonia Coalition PI or coordinator at Emory University or the RDCRN Data Management and Coordination Center for more information.
Hyder A. Jinnah, MD, PhD, Emory University
Hyder A. Jinnah, MD, PhD
  • National Institute of Neurological Disorders and Stroke (NINDS)
  • Office of Rare Diseases (ORD)
  • Allergan
  • Dystonia Study Group
Principal Investigator: H. A. Jinnah, MD, PhD Emory University
Emory University
August 2017