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Brain scans and genes in people with dystonia and healthy volunteers

Studies brain imaging and genes in people with dystonia and healthy volunteers.

Key facts

Who runs it
University of Texas Southwestern Medical Center
Where
Dallas, United StatesSee the site
Trial code
Registry title
Dystonia Genotype-Phenotype Correlation
Status
Recruiting
People taking part
200 people, planned
Started
1 Mar 2018
Expected to end
Sept 2027
Type of study
Observational, 2 groups
Treatments tested
  • Magnetic Resonance Imaging
Record updated
23 September 2026

Who can take part

AI summary

From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.

The trial is looking for people with any form of dystonia, and healthy people without dystonia as a control group. It uses an MRI brain scan and a blood test for gene studies.

Age
Older than 11 years.
Sex
All sexes can join.
Disease stage
Dystonia group: a previous diagnosis of dystonia, for example cervical dystonia, blepharospasm, limb dystonia, spasmodic dysphonia, segmental, multi-focal or childhood-onset dystonia. Control group: no prior dystonia diagnosis.
Earlier treatment
Dystonia group cannot use other medicines acting on the brain, or a neck brace for dystonia. Medicines for depression or anxiety (such as SSRI) are allowed.

Main reasons for not taking part

  • Metal in the body, a pacemaker or other device that is unsafe in MRI, fear of closed spaces, or weight unsafe for MRI.
  • Pregnancy.
  • Head injury with lasting nerve problems, many concussions, stroke, or prior brain injury.
  • Serious illness, such as cancer treated with radiation or chemotherapy, heart attack, HIV-1, Hepatitis C, insulin-dependent diabetes, or severe breathing problems.
  • Other neurological or psychiatric diagnosis (depression or anxiety allowed), or not fluent in English.

The registry criteria, word for word

Show all 21 criteriaShow less

Who can take part

  • 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

Who cannot take part

  • 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

Other 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

Where in United States

  • University of Texas Southwestern Medical CenterDallas, United StatesContact: Alyssa BoudreauTaking people

About the trial

What the trial wants to find out

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.

The 2 groups in the trial

  • Dystonia group

    Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.

    Treatment: Magnetic Resonance Imaging

  • Control Group

    Both groups will have blood drawn, undergo clinical assessments, the collection of medical and family history, and an Magnetic Resonance Imaging. This is an observational study and there is no intervention.

    Treatment: Magnetic Resonance Imaging

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Official title
Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes
Plain-language title
Brain scans and genes in people with dystonia and healthy volunteersGenerated from the registry record. The registry title is the official one.
AI summary
From the trial's eligibility criteria. Read by machine on 14 November 2026.
Record updated
23 September 2026