Investigating the relationship between genetic mutations and brain changes in dystonia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Using GPi brain signals to guide DBS programming for primary dystonia

  This study will test whether recording local field potentials from the globus pallidus interna with the Medtronic Percept device can help guide DBS programming and improve symptoms in adults with primary dystonia.

  Recruiting Newcastle-upon-Tyne Hospitals NHS Trust · Newcastle upon Tyne, Tyne & Wear · NCT07309133

• Understanding how trihexyphenidyl works in children with dystonic cerebral palsy

  This study is testing how well the medication trihexyphenidyl works for children with dystonic cerebral palsy and if their genes affect how the drug works.

  Recruiting Phase 1 Children's Mercy Hospital Kansas City · Kansas City, Missouri · NCT06554288

• Intraoperative Microelectrode Recordings with MAVEN vs Standard Equipment

  This study tests whether MAVEN can match the recording data collected during DBS surgery for movement disorders using standard equipment.

  Recruiting Mayo Clinic · Rochester, Minnesota · NCT07868614

• See if repetitive transcranial magnetic stimulation helps with dystonia symptoms

  This study tests whether applying rTMS can alter brain activity to help people with dystonia.

  Recruiting Northwell Health · Manhasset, New York · NCT07626216

• Low-intensity focused ultrasound for movement and seizure disorders

  This trial will try low-intensity focused ultrasound (LIFUS) to see if it can safely change brain activity in people with movement disorders or epilepsy.

  Recruiting University Health Network, Toronto · Toronto, Ontario · NCT07417280

• Measuring brain network activity to predict and improve outcomes in children with dystonia

  This project will test whether noninvasive brain and muscle recordings, and comparing DBS on versus off, can predict and help improve motor outcomes for children with dystonia.

  Recruiting Children's Hospital Medical Center, Cincinnati · Cincinnati, Ohio · NCT07325175

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.