Investigating the relationship between genetic mutations and brain changes in dystonia
Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes
This study is trying to see how genetic changes linked to dystonia affect the brain in people with the condition compared to healthy individuals.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 11 Years and up |
| Sex | All |
| Sponsor | University of Texas Southwestern Medical Center Academic / other |
| Drugs / interventions | chemotherapy, radiation |
| Locations | 1 site (Dallas, Texas) |
| Trial ID | NCT03428009 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore how known dystonia-causing mutations affect brain structure and function. It will involve recruiting individuals with various forms of dystonia, as well as healthy controls, to undergo clinical assessments, MRI scans, and genetic analysis. The study will analyze brain activity and structure before and after botulinum toxin injections in some participants, while also collecting detailed clinical information to identify potential new dystonia-related genes. The goal is to better understand the differences in brain changes associated with different clinical phenotypes of dystonia.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with any form of dystonia, including idiopathic and familial types.
Not a fit: Patients with conditions that prevent MRI compatibility or those with severe medical illnesses may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with dystonia.
How similar studies have performed: Other studies have shown promise in understanding the genetic and neurological aspects of dystonia, but this specific approach may offer novel insights.
Eligibility criteria
Show full inclusion / exclusion criteria
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 Inclusion Criteria: * 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 Criteria: * 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
Where this trial is running
Dallas, Texas
- University of Texas Southwestern Medical Center — Dallas, Texas, United States (Recruiting)
Study contacts
- Study coordinator: Alyssa Boudreau
- Email: alyssa.boudreau@utsouthwestern.edu
- Phone: 214-456-2106
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.