Dystonia Genotype-Phenotype Correlation

Launched by UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER · Feb 2, 2018

Keywords

ClinConnect Summary

This clinical trial, titled "Dystonia Genotype-Phenotype Correlation," aims to better understand how specific genetic mutations related to dystonia affect the brain. Dystonia is a movement disorder that causes involuntary muscle contractions, and the study will look at how these mutations may lead to different symptoms in patients. Researchers will also collect DNA samples and family histories from people with dystonia to find new genes linked to the condition. The study is currently recruiting participants, which includes both individuals diagnosed with various types of dystonia and healthy volunteers.

Eligible participants are those aged 11 years and older, with a confirmed diagnosis of dystonia or those without any history of the disorder. During the study, participants will attend up to two visits lasting 3-5 hours each, where they’ll undergo a clinical assessment, complete tasks for an MRI scan, and provide a blood sample for genetic testing. If someone with dystonia receives botulinum toxin injections for treatment, they may have a second visit as well. It's important to note that certain individuals, such as those with metal implants or serious medical conditions, may not be able to participate.

Gender

ALL

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