Dystonia Genotype-Phenotype Correlation
1 other identifier
observational
200
1 country
1
Brief Summary
The purpose of this study is to (1) investigate the effect of known dystonia-causing mutations on brain structure and function, to (2) identify structural brain changes that differ between clinical phenotypes of dystonia, and to (3) collect DNA, detailed family history, and clinical phenotypes from patients with idiopathic dystonia with the goal of identifying new dystonia-related genes. Investigators will be recruiting both healthy control subjects and subjects with any form of dystonia. For this study there will be a maximum of two study visit involving a clinical assessment, collection of medical and family history, task training session, an MRI using the learned tasks, and finally a blood draw for genetic analysis. In total, these visits will take 3-5 hours. If the dystonia subjects receive botulinum toxin injections for treatment, the participants and their matched controls will be asked to come for a second visit.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2018
Longer than P75 for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
February 2, 2018
CompletedFirst Posted
Study publicly available on registry
February 9, 2018
CompletedStudy Start
First participant enrolled
March 1, 2018
CompletedPrimary Completion
Last participant's last visit for primary outcome
September 1, 2027
ExpectedStudy Completion
Last participant's last visit for all outcomes
September 1, 2027
June 6, 2025
June 1, 2025
9.5 years
February 2, 2018
June 3, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (2)
Structural or functional imaging of dystonia and control groups
Identify structural or functional imaging measures that distinguish (a) dystonia patients from matched controls, (b) between clinically-defined forms of dystonia
3-5 hours at each study visit
Genetic Analysis of dystonia and control groups
Identify polymorphisms in genes known to cause dystonia that affect the structural or functional imaging measures in dystonia patients and to identify new genes associated with dystonia.
30 min
Study Arms (2)
Dystonia group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
Control Group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
Interventions
Study interventions are minimal risk.
Eligibility Criteria
Investigators will recruit both healthy participants and individuals diagnosed with dystonia of any form for this study. Each Dystonia subject will be matched 1:1 with an unrelated control subject based on: 1) age, +/- 3 years (adults), +/- 1 year (16-18y), +/- 6 months (11-15y); 2) handedness, as determined by the Edinburgh Handedness Inventory, 3) gender, and 4) self-identified racial or ethnic background.
You may qualify if:
- Dystonia group
- Previous diagnosis of dystonia which include but is not limited to:
- cervical dystonia (50 subjects)
- blepharospasm (25 subjects)
- limb dystonia (50 subjects)
- spasmodic dysphonia (25 subjects)
- segmental dystonia
- multi-focal dystonia
- Any childhood-onset dystonia (25 subjects) Age \> 11 years
- Control group:
- No prior dystonia diagnosis (175 subjects) Age \> 11 years
You may not qualify if:
- Dystonia group Prior history of or concurrent neurological or psychiatric diagnosis - depression and/or anxiety accepted Current use of non-dystonia neuroactive medications - SSRI/medication for depression and/or anxiety accepted Current use of cervical brace designed for dystonia treatment Prior structural brain injury
- Control group:
- History of or current neurological or psychiatric diagnosis - depression and/or anxiety accepted, but must not be in active phase Current use of any neuroactive medication, SSRI/medication for depression and/or anxiety accepted
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (1)
University of Texas Southwestern Medical Center
Dallas, Texas, 75390, United States
Biospecimen
Investigators will be collecting blood samples once ( two 8.5 mL Vacutainer tubes) at the participants first study visit to be sent to MGH for genetic analysis. Investigators will aliquot the whole blood collected into cyrovials and ship them overnight on dry ice to the MGH tissue culture bank to be stored and processed. No identifiable information will be sent with the blood samples.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Associate Professor
Study Record Dates
First Submitted
February 2, 2018
First Posted
February 9, 2018
Study Start
March 1, 2018
Primary Completion (Estimated)
September 1, 2027
Study Completion (Estimated)
September 1, 2027
Last Updated
June 6, 2025
Record last verified: 2025-06
Data Sharing
- IPD Sharing
- Will share
- Time Frame
- DNA samples will be stored indefinitely
Data and/or sample collection was specifically for research and subjects indicated that their data could be shared with other scientists. Investigators will only send coded data and/or samples with no identifying information. In addition, all whole blood for DNA samples collected for this protocol will be sent for DNA sequencing and genetic analysis at Massachusetts General Hospital in Dr. Nutan Sharma's lab. In addition at Massachusetts General Tissue Culture Core in the Dystonia Partners Research Biobank investigators will contribute the subject's deidentified DNA sample from this protocol for use in future genetic research regarding dystonia.