NCT03428009 · University of Texas Southwestern Medical Center
Dystonia Genotype-Phenotype Correlation
What this study is about
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.
View original scientific description
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.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
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
- (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
- 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
- Dallas, Texas
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jun 6, 2025 · Source of record for eligibility and locations