Clinical trial NCT01373424: The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias
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 type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Dystonia
Keywords: Observational study
Cross-sectional and Prospective study
Cohort and case-control study
Lead sponsor: Emory University
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
name: Office of Rare Diseases (ORD)
name: Allergan
name: Dystonia Study Group
First posted: 2011-06-15
Enrollment: 3265
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: OTHER
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.

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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Observational
timeFrame: 7 years
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama, Birmingham
state: Alabama
city: Scottsdale
country: United States
facility: Mayo Clinic, Arizona
state: Arizona
city: Fountain Valley
country: United States
facility: Parkinson's and Movement Disorders Institute
state: California
city: La Jolla
country: United States
facility: University of California, San Diego
state: California
city: Denver
country: United States
facility: University of Colorado, Denver
state: Colorado
city: Gainesville
country: United States
facility: University of Florida, Gainesville
state: Florida
city: Atlanta
country: United States
facility: Emory University
state: Georgia
city: Chicago
country: United States
facility: Rush University
state: Illinois
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Baltimore
country: United States
facility: University of Maryland
state: Maryland
city: Baltimore
country: United States
facility: Johns Hopkins University
state: Maryland
city: Bethesda
country: United States
facility: National Institutes of Health
state: Maryland
city: Elkridge
country: United States
facility: Parkinson's and Movement Disorders Center of Maryland
state: Maryland
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center
state: Massachusetts
city: Burlington
country: United States
facility: Lahey Hospital and Medical Center
state: Massachusetts
city: Saint Louis
country: United States
facility: Washington University in St. Louis
state: Missouri
city: Albuquerque
country: United States
facility: University of New Mexico
state: New Mexico
city: New York
country: United States
facility: Mount Sinai Beth Israel
state: New York
city: New York
country: United States
facility: Mount Sinai Medical Center
state: New York
city: Rochester
country: United States
facility: University of Rochester
state: New York
city: Winston-Salem
country: United States
facility: Wake Forest
state: North Carolina
city: Fargo
country: United States
facility: Sanford Health - Fargo
state: North Dakota
city: Cincinnati
country: United States
facility: University of Cincinnati
state: Ohio
city: Philadelphia
country: United States
facility: University of Pennsylvania, Parkinson's Disease and Movement Disorders Center
state: Pennsylvania
city: Memphis
country: United States
facility: University of Tennessee
state: Tennessee
city: Dallas
country: United States
facility: University of Texas, Southwestern
state: Texas
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: Houston
country: United States
facility: Houston Methodist Neurological Institute
state: Texas
city: Houston
country: United States
facility: University of Texas
state: Texas
city: Harrisonburg
country: United States
facility: James Madison University
state: Virginia
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Kirkland
country: United States
facility: Booth Gardner Parkinson's Care Center
state: Washington
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
city: Westmead
country: Australia
facility: Westmead Hospital
city: Edmonton
country: Canada
facility: University of Alberta
state: Alberta
city: Toronto
country: Canada
facility: Toronto Western Hospital
state: Ontario
city: Montreal
country: Canada
facility: Centre Hospitalier de l'Universite de Montreal
state: Quebec
city: Paris
country: France
facility: Hopital de la Salpetriere
city: Luebeck
country: Germany
facility: University Hospital of Schleswig-Holstein
city: Rome
country: Italy
facility: University of Rome
city: London
country: United Kingdom
facility: University College London Institute of Neurology
Study officials:
affiliation: Emory University
name: H. A. Jinnah, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.