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Dystonia Genotype-Phenotype Correlation
Sponsor: University of Texas Southwestern Medical Center
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.
Official title: Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes
Key Details
Gender
All
Age Range
11 Years - Any
Study Type
OBSERVATIONAL
Enrollment
200
Start Date
2018-03-01
Completion Date
2027-09
Last Updated
2025-06-06
Healthy Volunteers
Yes
Conditions
Interventions
Magnetic Resonance Imaging
Study interventions are minimal risk.
Locations (1)
University of Texas Southwestern Medical Center
Dallas, Texas, United States