NCT03428009 Dystonia Genotype-Phenotype Correlation
| NCT ID | NCT03428009 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Texas Southwestern Medical Center |
| Condition | Dystonia |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2018-03-01 |
| Primary Completion | 2027-09 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2018-03-01 with a primary completion date of 2027-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT03428009 clinical trial?
This trial is open to participants of all sexes, aged 11 Years or older, studying Dystonia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT03428009 currently recruiting?
Yes, NCT03428009 is actively recruiting participants. Contact the research team at alyssa.boudreau@utsouthwestern.edu for enrollment information.
Where is the NCT03428009 trial being conducted?
This trial is being conducted at Dallas, United States.
Who is sponsoring the NCT03428009 clinical trial?
NCT03428009 is sponsored by University of Texas Southwestern Medical Center. The trial plans to enroll 200 participants.