RecruitingNCT03428009

Dystonia Genotype-Phenotype Correlation

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

Sponsor

University of Texas Southwestern Medical Center

Enrollment

200 participants

Start Date

Mar 1, 2018

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

Min Age: 11 Years

Inclusion Criteria23

General Exclusion (both Dystonia and Control groups):
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
History of head trauma with neurological sequelae, including multiple concussions and/or history of stroke
Pregnancy
Serious medical illness or history of serious medical illness, including cancer that was treated with radiation or chemotherapy, heart attack, or a known history of HIV-1 + status
Subjects with Hepatitis C (by Hepatitis C+ titer)
Subjects with insulin dependent diabetes mellitus (IDDM)
Severe respiratory compromise
In the opinion of the investigator, not able to safely participate in this study
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

Exclusion Criteria3

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
Control group:
History of or current neurological or psychiatric diagnosis - depression and/or anxiety accepted, but must not be in active phase Current use of any neuroactive medication, SSRI/medication for depression and/or anxiety accepted

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