Actively Recruiting
Dystonia Genotype-Phenotype Correlation
Led by University of Texas Southwestern Medical Center · Updated on 2025-06-06
200
Participants Needed
1
Research Sites
495 weeks
Total Duration
On this page
Sponsors
U
University of Texas Southwestern Medical Center
Lead Sponsor
M
Massachusetts General Hospital
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Dystonia Genotype-Phenotype Correlation
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants aged over 11 years
- Dystonia group: previous diagnosis of dystonia including cervical dystonia, blepharospasm, limb dystonia, spasmodic dysphonia, segmental dystonia, multi-focal dystonia, or childhood-onset dystonia
- Control group: no prior dystonia diagnosis
- Ability to undergo MRI scanning
You will not qualify if you...
- Presence of metal in the body or medical devices incompatible with MRI
- Claustrophobia
- Non-fluency in English
- Weight incompatible with MRI safety
- History of head trauma with neurological effects or stroke
- Pregnancy
- Serious medical illnesses including cancer treated with radiation/chemotherapy, heart attack, HIV-1 positive status
- Hepatitis C positive
- Insulin dependent diabetes mellitus
- Severe respiratory compromise
- Investigator judgment of inability to safely participate
- Dystonia group: prior or current neurological or psychiatric diagnosis excluding depression and/or anxiety, current use of neuroactive medications excluding those for depression/anxiety, use of cervical brace for dystonia treatment, prior structural brain injury
- Control group: history or current neurological or psychiatric diagnosis in active phase, current use of neuroactive medications excluding those for depression/anxiety
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
University of Texas Southwestern Medical Center
Dallas, Texas, United States, 75390
Actively Recruiting
Research Team
A
Alyssa Boudreau
CONTACT
J
Jeff Waugh, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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