Dystonia Genotype-Phenotype Correlation

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age11+
SponsorUniversity of Texas Southwestern Medical Center

About this trial

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.

Eligibility criteria

Qualifiers

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

Disqualifiers

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

Trial design

Treatments tested in this trial

  • Magnetic Resonance Imaging

Treatment groups

200 Participants
are divided into 2 treatment groups

Sponsors and collaborators

University of Texas Southwestern Medical Center

Lead sponsor

Massachusetts General Hospital

Collaborator