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

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.

Study Overview

• Status: Completed
• Conditions: Dystonia

Detailed 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.

• Study Type: Observational
• Enrollment (Actual): 3265

Contacts and Locations

Study Locations

• Australia
  • Westmead, Australia
    • Westmead Hospital
• Canada
  • Alberta
    • Edmonton, Alberta, Canada, T6G 2B7
      • University of Alberta
  • Ontario
    • Toronto, Ontario, Canada, MST 258
      • Toronto Western Hospital
  • Quebec
    • Montreal, Quebec, Canada, H2C 4M1
      • Centre Hospitalier de l'Université de Montréal
• France
  • Paris, France
    • Hôpital de la Salpêtrière
• Germany
  • Luebeck, Germany, 23562
    • University Hospital of Schleswig-Holstein
• Italy
  • Rome, Italy
    • University of Rome
• United Kingdom
  • London, United Kingdom, WC1N 3BG
    • University College London Institute of Neurology
• United States
  • Alabama
    • Birmingham, Alabama, United States, 35233
      • University of Alabama, Birmingham
  • Arizona
    • Scottsdale, Arizona, United States, 85259
      • Mayo Clinic, Arizona
  • California
    • Fountain Valley, California, United States, 72708
      • Parkinson's and Movement Disorders Institute
    • La Jolla, California, United States, 92037
      • University of California, San Diego
  • Colorado
    • Denver, Colorado, United States, 80045
      • University of Colorado, Denver
  • Florida
    • Gainesville, Florida, United States, 32611
      • University of Florida, Gainesville
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University
  • Illinois
    • Chicago, Illinois, United States, 60637
      • University of Chicago
    • Chicago, Illinois, United States, 60612
      • Rush University
  • Iowa
    • Iowa City, Iowa, United States, 52242
      • University of Iowa
  • Maryland
    • Baltimore, Maryland, United States, 21201
      • University of Maryland
    • Baltimore, Maryland, United States, 21287
      • Johns Hopkins University
    • Bethesda, Maryland, United States, 20892
      • National Institutes of Health
    • Elkridge, Maryland, United States, 21075
      • Parkinson's and Movement Disorders Center of Maryland
  • Massachusetts
    • Boston, Massachusetts, United States, 02215
      • Beth Israel Deaconess Medical Center
    • Burlington, Massachusetts, United States, 01805
      • Lahey Hospital and Medical Center
  • Missouri
    • Saint Louis, Missouri, United States, 63110
      • Washington University in St. Louis
  • New Mexico
    • Albuquerque, New Mexico, United States, 87113
      • University of New Mexico
  • New York
    • New York, New York, United States, 10029
      • Mount Sinai Medical Center
    • New York, New York, United States, 10003
      • Mount Sinai Beth Israel
    • Rochester, New York, United States, 14618
      • University of Rochester
  • North Carolina
    • Winston-Salem, North Carolina, United States, 27157
      • Wake Forest
  • North Dakota
    • Fargo, North Dakota, United States, 58103
      • Sanford Health - Fargo
  • Ohio
    • Cincinnati, Ohio, United States, 45219
      • University of Cincinnati
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19107
      • University of Pennsylvania, Parkinson's Disease and Movement Disorders Center
  • Tennessee
    • Memphis, Tennessee, United States, 38163
      • University of Tennessee
  • Texas
    • Dallas, Texas, United States, 75390
      • University of Texas, Southwestern
    • Houston, Texas, United States, 77030
      • Baylor College of Medicine
    • Houston, Texas, United States, 77030
      • University of Texas
    • Houston, Texas, United States, 77030
      • Houston Methodist Neurological Institute
  • Virginia
    • Harrisonburg, Virginia, United States, 22807
      • James Madison University
    • Richmond, Virginia, United States, 23298
      • Virginia Commonwealth University
  • Washington
    • Kirkland, Washington, United States, 98034
      • Booth Gardner Parkinson's Care Center
  • Wisconsin
    • Milwaukee, Wisconsin, United States, 53226
      • Medical College of Wisconsin

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Other

Number of groups / cohorts

8

Cohorts and Interventions

Group / Cohort
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Observational	There is no primary outcome measure as this is an observational study.	7 years

Collaborators and Investigators

• Sponsor: Emory University
• Collaborators: National Institute of Neurological Disorders and Stroke (NINDS); Allergan; Office of Rare Diseases (ORD); Dystonia Study Group
• Investigators: Principal Investigator: H. A. Jinnah, MD, PhD, Emory University

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start: January 1, 2011
• Primary Completion (Actual): September 30, 2020
• Study Completion (Actual): September 30, 2020

Study Registration Dates

• First Submitted: June 2, 2011
• First Submitted That Met QC Criteria: June 14, 2011
• First Posted (Estimate): June 15, 2011

Study Record Updates

• Last Update Posted (Actual): October 26, 2020
• Last Update Submitted That Met QC Criteria: October 23, 2020
• Last Verified: October 1, 2020

More Information

Terms related to this study

• Keywords: Observational study; Cross-sectional and Prospective study; Cohort and case-control study
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neurologic Manifestations; Movement Disorders; Dyskinesias; Dystonia; Dystonic Disorders
• Other Study ID Numbers: IRB00046266; U54TR001456 (U.S. NIH Grant/Contract); RDCRN#6301 (Other Identifier: Other); U54NS065701 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD 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.

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No