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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 8, 2018
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

Brief Summary:
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.

Condition or disease

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.

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Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Other
Time Perspective: Other
Official Title: Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia
Study Start Date : January 2011
Estimated Primary Completion Date : June 2020
Estimated Study Completion Date : August 2021

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

Primary Outcome Measures :
  1. Observational [ Time Frame: 7 years ]
    There is no primary outcome measure as this is an observational study.

Biospecimen Retention:   Samples With DNA
Whole blood, DNA, white blood cells, cell lines

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01373424

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Contact: Adam Kassem 404-727-3381

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United States, Alabama
University of Alabama, Birmingham Completed
Birmingham, Alabama, United States, 35233
United States, Arizona
Mayo Clinic, Arizona Completed
Scottsdale, Arizona, United States, 85259
United States, California
Parkinson's and Movement Disorders Institute Recruiting
Fountain Valley, California, United States, 72708
Contact: Rosie Magallon    714-378-5021   
Contact: Olivia Tong    714-378-5033      
Principal Investigator: Daniel Truong, MD         
University of California, San Diego Completed
La Jolla, California, United States, 92037
United States, Colorado
University of Colorado, Denver Recruiting
Denver, Colorado, United States, 80045
Contact: Erika Shelton    303-724-5865   
Principal Investigator: Brian D. Berman, MD         
United States, Florida
University of Florida, Gainesville Recruiting
Gainesville, Florida, United States, 32611
Contact: Amanda Fessenden    352-294-5434   
Sub-Investigator: Michael Okun, MD         
Principal Investigator: Irene Malaty, MD         
United States, Georgia
Emory University Recruiting
Atlanta, Georgia, United States, 30322
Contact: Adam Kassem    404-727-3381   
Principal Investigator: H. A. Jinnah, MD, PhD         
United States, Illinois
Rush University Recruiting
Chicago, Illinois, United States, 60612
Contact: Samantha Ruehl    312-942-4500   
Principal Investigator: Cynthia Comella, MD         
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Breanna Bertacchi    773-834-1688   
Principal Investigator: Tao Xie, PhD         
United States, Iowa
University of Iowa Recruiting
Iowa City, Iowa, United States, 52242
Contact: Jeri Sieren, RN    319-356-8744   
Principal Investigator: Ergun Uc, MD         
United States, Maryland
University of Maryland Recruiting
Baltimore, Maryland, United States, 21201
Contact: Karen Callison    410-328-4892   
Contact: Christina Griffin    410-328-4349   
Principal Investigator: Stephen Reich, MD         
Johns Hopkins University Recruiting
Baltimore, Maryland, United States, 21287
Contact: Aathman Swaminathan    410-955-6672   
Principal Investigator: Zoltan Mari, MD         
National Institutes of Health Recruiting
Bethesda, Maryland, United States, 20892
Contact: Karin Mente, MD   
Contact: Elaine Considine, RN, BSN    301-435-8518   
Principal Investigator: Mark Hallett, MD         
Parkinson's and Movement Disorders Center of Maryland Completed
Elkridge, Maryland, United States, 21075
United States, Massachusetts
Beth Israel Deaconess Medical Center Recruiting
Boston, Massachusetts, United States, 02215
Contact: Laura Hernandez    617-667-4746   
Principal Investigator: Ludy Shih, MD         
Lahey Hospital and Medical Center Recruiting
Burlington, Massachusetts, United States, 01805
Contact: Nicholas Ventura    781-744-3216   
Principal Investigator: Julie Leegwater-Kim, MD, PhD         
United States, Missouri
Washington University in St. Louis Recruiting
Saint Louis, Missouri, United States, 63110
Contact: Jo Wright    314-362-7148   
Principal Investigator: Joel Perlmutter, MD         
Sub-Investigator: Randy Paniello, MD         
United States, New Mexico
University of New Mexico Recruiting
Albuquerque, New Mexico, United States, 87113
Contact: Ashley Wegele    505-272-8740   
Principal Investigator: Sarah Pirio Richardson, MD         
United States, New York
Mount Sinai Beth Israel Recruiting
New York, New York, United States, 10003
Contact: Deborah Raymond, MS, CGC    212-844-8713   
Principal Investigator: Rachel Saunders-Pullman, MD, MPH         
Mount Sinai Medical Center Completed
New York, New York, United States, 10029
University of Rochester Recruiting
Rochester, New York, United States, 14618
Contact: Michael Bull    585-341-7515   
Principal Investigator: Richard Barbano, MD, PhD         
United States, North Carolina
Wake Forest Recruiting
Winston-Salem, North Carolina, United States, 27157
Contact: Charlotte Miller, RN, CCRC    336-716-9056   
Principal Investigator: Allison Brashear, MD         
Sub-Investigator: Ihtsham Haq, MD         
Sub-Investigator: Mustafa Siddiqui, MD         
Sub-Investigator: Francis Walker, MD         
United States, North Dakota
Sanford Health - Fargo Recruiting
Fargo, North Dakota, United States, 58103
Contact: Destini Spaeth    701-234-4021   
Principal Investigator: Tanya Harlow, MD         
United States, Ohio
University of Cincinnati Recruiting
Cincinnati, Ohio, United States, 45219
Contact: Joaquin Vizcarra    513-558-0505   
Contact: Ricardo Lopez, MD    513-558-7643   
Principal Investigator: Alberto Espay, MD, MSc         
Sub-Investigator: Fredy Revilla, MD         
United States, Pennsylvania
University of Pennsylvania, Parkinson's Disease and Movement Disorders Center Recruiting
Philadelphia, Pennsylvania, United States, 19107
Contact: Benjamin Deck    215-829-5299   
Principal Investigator: Andres Deik, MD         
United States, Tennessee
University of Tennessee Recruiting
Memphis, Tennessee, United States, 38163
Contact: Robin Cox   
Principal Investigator: Mark S. LeDoux, MD, PhD         
United States, Texas
University of Texas, Southwestern Completed
Dallas, Texas, United States, 75390
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: Farah Ismail    713-798-5120   
Contact: Christine Hunter, RN, BSN    713-798-3951   
Sub-Investigator: Laura Marsh, MD         
Principal Investigator: Joseph Jankovic, MD         
Houston Methodist Neurological Institute Recruiting
Houston, Texas, United States, 77030
Contact: Chia Artif, CCRC    713-363-8390   
Contact: Titilayo Olubajo    346-238-9068   
Principal Investigator: William G. Ondo, MD         
University of Texas Completed
Houston, Texas, United States, 77030
United States, Virginia
James Madison University Completed
Harrisonburg, Virginia, United States, 22807
Virginia Commonwealth University Recruiting
Richmond, Virginia, United States, 23298
Contact: Ginger Norris, MGC, CGC    804-628-1820   
Principal Investigator: Claudia Testa, MD, PhD         
United States, Washington
Booth Gardner Parkinson's Care Center Recruiting
Kirkland, Washington, United States, 98034
Contact: Carey Gonzales    425-899-5374   
Principal Investigator: Pinky Agarwal, MD, FAAN         
United States, Wisconsin
Medical College of Wisconsin Completed
Milwaukee, Wisconsin, United States, 53226
Westmead Hospital Recruiting
Westmead, Australia
Contact: Jane Griffith    +61 2 98456793   
Contact: Florence Chang, MBBS    +61-2-9845-8908   
Principal Investigator: Victor Fung, MD         
Canada, Alberta
University of Alberta Recruiting
Edmonton, Alberta, Canada, T6G 2B7
Contact: Paul McCann    780-407-1614   
Principal Investigator: Oksana Suchowersky, MD         
Canada, Ontario
Toronto Western Hospital Recruiting
Toronto, Ontario, Canada, MST 258
Contact: Brandon Rothberg    416-603-5800 ext 3120   
Principal Investigator: Susan Fox, MD, PhD         
Sub-Investigator: Mateusz Zurowski, MD         
Canada, Quebec
Centre Hospitalier de l'Universite de Montreal Completed
Montreal, Quebec, Canada, H2C 4M1
Hopital de la Salpetriere Recruiting
Paris, France
Contact: Marta Ruiz    +33142167717   
Principal Investigator: Marie Vidailhet, MD         
Principal Investigator: Emmanuel Roze, MD         
University Hospital of Schleswig-Holstein Recruiting
Luebeck, Germany, 23562
Contact: Susanna Langeloh    49 451 3101 8216   
Principal Investigator: Christine Klein, MD         
University of Rome Recruiting
Rome, Italy
Contact: Giovanni Fabbrini, MD    390-649-914-700   
Principal Investigator: Alfredo Berardelli, MD         
United Kingdom
University College London Institute of Neurology Recruiting
London, United Kingdom, WC1N 3BG
Contact: Anna Latorre   
Principal Investigator: Kailash Bhatia, FRCP         
Sponsors and Collaborators
Hyder A. Jinnah, MD, PhD
National Institute of Neurological Disorders and Stroke (NINDS)
Office of Rare Diseases (ORD)
Dystonia Study Group
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Principal Investigator: H. A. Jinnah, MD, PhD Emory University

Additional Information:
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Hyder A. Jinnah, MD, PhD, Principal Investigator, Emory University Identifier: NCT01373424     History of Changes
Other Study ID Numbers: IRB00046266
U54TR001456 ( U.S. NIH Grant/Contract )
RDCRN#6301 ( Other Identifier: Other )
U54NS065701 ( U.S. NIH Grant/Contract )
First Posted: June 15, 2011    Key Record Dates
Last Update Posted: August 8, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
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.

Keywords provided by Hyder A. Jinnah, MD, PhD, Emory University:
Observational study
Cross-sectional and Prospective study
Cohort and case-control study

Additional relevant MeSH terms:
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Dystonic Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Movement Disorders
Central Nervous System Diseases