Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 11
Healthy Volunteers: t
View:

• 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

Locations
United States
Texas
University of Texas Southwestern Medical Center
RECRUITING
Dallas
Contact Information
Primary
Alyssa Boudreau
alyssa.boudreau@utsouthwestern.edu
214-456-2106
Backup
Jeff Waugh, MD, PhD
Jeff.Waugh@UTSouthwestern.edu
214-867-6906
Time Frame
Start Date: 2018-03-01
Estimated Completion Date: 2027-09
Participants
Target number of participants: 200
Treatments
Dystonia group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
Control Group
Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.
Sponsors
Collaborators: Massachusetts General Hospital
Leads: University of Texas Southwestern Medical Center

This content was sourced from clinicaltrials.gov