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| ID | Type | Description | Link |
|---|---|---|---|
| U54TR001456 | U.S. NIH Grant/Contract | View source | |
| RDCRN#6301 | Other Identifier | Other | |
| U54NS065701 | U.S. NIH Grant/Contract | View source |
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| Name | Class |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | NIH |
| Office of Rare Diseases (ORD) | NIH |
| Allergan | INDUSTRY |
| Dystonia Study Group |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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 | ||
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| Measure | Description | Time Frame |
|---|---|---|
| Observational | There is no primary outcome measure as this is an observational study. | 7 years |
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Inclusion Criteria:
Exclusion Criteria:
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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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| Name | Affiliation | Role |
|---|---|---|
| H. A. Jinnah, MD, PhD | Emory University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Alabama, Birmingham | Birmingham | Alabama | 35233 | United States | ||
| Mayo Clinic, Arizona |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 24828895 | Derived | 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. |
| Label | URL |
|---|---|
| Dystonia Coalition website | View source |
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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.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| ICF | No | No | Yes | Informed Consent Form | Aug 3, 2016 | Jan 29, 2020 |
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| OTHER |
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Whole blood, DNA, white blood cells, cell lines
| Dopa-responsive dystonia |
People diagnosed with dopa-responsive dystonia |
| Scottsdale |
| Arizona |
| 85259 |
| United States |
| Parkinson's and Movement Disorders Institute | Fountain Valley | California | 72708 | United States |
| University of California, San Diego | La Jolla | California | 92037 | United States |
| University of Colorado, Denver | Denver | Colorado | 80045 | United States |
| University of Florida, Gainesville | Gainesville | Florida | 32611 | United States |
| Emory University | Atlanta | Georgia | 30322 | United States |
| Rush University | Chicago | Illinois | 60612 | United States |
| University of Chicago | Chicago | Illinois | 60637 | United States |
| University of Iowa | Iowa City | Iowa | 52242 | United States |
| University of Maryland | Baltimore | Maryland | 21201 | United States |
| Johns Hopkins University | Baltimore | Maryland | 21287 | United States |
| National Institutes of Health | Bethesda | Maryland | 20892 | United States |
| Parkinson's and Movement Disorders Center of Maryland | Elkridge | Maryland | 21075 | United States |
| Beth Israel Deaconess Medical Center | Boston | Massachusetts | 02215 | United States |
| Lahey Hospital and Medical Center | Burlington | Massachusetts | 01805 | United States |
| Washington University in St. Louis | St Louis | Missouri | 63110 | United States |
| University of New Mexico | Albuquerque | New Mexico | 87113 | United States |
| Mount Sinai Beth Israel | New York | New York | 10003 | United States |
| Mount Sinai Medical Center | New York | New York | 10029 | United States |
| University of Rochester | Rochester | New York | 14618 | United States |
| Wake Forest | Winston-Salem | North Carolina | 27157 | United States |
| Sanford Health - Fargo | Fargo | North Dakota | 58103 | United States |
| University of Cincinnati | Cincinnati | Ohio | 45219 | United States |
| University of Pennsylvania, Parkinson's Disease and Movement Disorders Center | Philadelphia | Pennsylvania | 19107 | United States |
| University of Tennessee | Memphis | Tennessee | 38163 | United States |
| University of Texas, Southwestern | Dallas | Texas | 75390 | United States |
| Baylor College of Medicine | Houston | Texas | 77030 | United States |
| Houston Methodist Neurological Institute | Houston | Texas | 77030 | United States |
| University of Texas | Houston | Texas | 77030 | United States |
| James Madison University | Harrisonburg | Virginia | 22807 | United States |
| Virginia Commonwealth University | Richmond | Virginia | 23298 | United States |
| Booth Gardner Parkinson's Care Center | Kirkland | Washington | 98034 | United States |
| Medical College of Wisconsin | Milwaukee | Wisconsin | 53226 | United States |
| Westmead Hospital | Westmead | Australia |
| University of Alberta | Edmonton | Alberta | T6G 2B7 | Canada |
| Toronto Western Hospital | Toronto | Ontario | MST 258 | Canada |
| Centre Hospitalier de l'Universite de Montreal | Montreal | Quebec | H2C 4M1 | Canada |
| Hopital de la Salpetriere | Paris | France |
| University Hospital of Schleswig-Holstein | Lübeck | 23562 | Germany |
| University of Rome | Rome | Italy |
| University College London Institute of Neurology | London | WC1N 3BG | United Kingdom |
| ICF_000.pdf |
| ID | Term |
|---|---|
| D004421 | Dystonia |
| ID | Term |
|---|---|
| D020820 | Dyskinesias |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
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