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DystoniaGeneticsHealthy volunteersChildren's health

What this study is

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.

What's being tested

  • Magnetic Resonance Imaging

    Intervention · OTHER

    Study interventions are minimal risk.

Study details

Official title
Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes
Sponsor
University of Texas Southwestern Medical Center
Conditions
Dystonia · Dystonia; Idiopathic · Dystonia, Primary · Dystonia, Secondary · Dystonia, Familial · Dystonia Disorder · Dystonias, Sporadic · Dystonia; Orofacial · Dystonia Lenticularis · Dystonia, Paroxysmal · Dystonia 6 · Dystonia 5 · Dystonia 8 · Dystonia 9 · Dystonia 19 · Dystonia 10 · Dystonia 11 · Dystonia 20 · Dystonia 12 · Dystonia, Focal · Dystonia of Head · Dystonia, Diurnal
Enrolling
200 people
Starts
2018-03-01
Est. completion
2027-09
Record
View on ClinicalTrials.gov ↗