Status:
RECRUITING
Dystonia Genotype-Phenotype Correlation
Lead Sponsor:
University of Texas Southwestern Medical Center
Collaborating Sponsors:
Massachusetts General Hospital
Conditions:
Dystonia
Dystonia; Idiopathic
Eligibility:
All Genders
11+ years
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 ph...
Detailed Description
1. Identify a cohort of individuals with known dystonia-related gene mutations, and individuals with idiopathic but presumed-genetic dystonia. Some of these individuals may receive botulinum toxin inj...
Eligibility Criteria
Inclusion
- General Exclusion (both Dystonia and Control groups):
- Metal in any part of the body (including metal injury to the eye) OR carrying a medical device incompatible with MRI (e.g., metal implants such as surgical clips or pacemakers) OR positive screening per UTSW MRI screening form
- Claustrophobia
- Non-fluent English
- Weight incompatible with MRI safety
- History of head trauma with neurological sequelae, including multiple concussions and/or history of stroke
- Pregnancy
- Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or chemotherapy, heart attack, or a known history of HIV-1 + status
- Subjects with Hepatitis C (by Hepatitis C+ titer)
- Subjects with insulin dependent diabetes mellitus (IDDM)
- Severe respiratory compromise
- In the opinion of the investigator, not able to safely participate in this study
- 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
Exclusion
- 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
Key Trial Info
Start Date :
March 1 2018
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2027
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT03428009
Start Date
March 1 2018
End Date
September 1 2027
Last Update
June 6 2025
Active Locations (1)
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1
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390