Recruiting

Dystonia Research

Sponsor:

University of Texas Southwestern Medical Center

Code:

NCT03428009

Conditions

Dystonia

Dystonia; Idiopathic

Dystonia, Primary

Dystonia, Secondary

Dystonia, Familial

Eligibility Criteria

Sex: All

Age: 11+

Healthy Volunteers: Accepted

Interventions

Magnetic Resonance Imaging

Study Details

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.

Conditions

Dystonia

Dystonia; Idiopathic

Dystonia, Primary

Dystonia, Secondary

Dystonia, Familial

Study ID

NCT03428009

Start date

Mar 1, 2018

Status verified date

Jun, 2025

Completion date

Sep, 2027

Anticipated

Primary completion date

Sep, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 11+

Healthy Volunteers: Accepted

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

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

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.

Interventions

Magnetic Resonance Imaging

Study interventions are minimal risk.

Primary outcome measure

  • Structural or functional imaging of dystonia and control groups [ Time Frame: 3-5 hours at each study visit ]
  • Genetic Analysis of dystonia and control groups [ Time Frame: 30 min ]

Central Contacts and Locations

Central contacts

Alyssa Boudreau

214-456-2106alyssa.boudreau@utsouthwestern.edu

Jeff Waugh, MD, PhD

214-867-6906Jeff.Waugh@UTSouthwestern.edu

Locations

University of Texas Southwestern Medical Center

Recruiting

Dallas, Texas, United States, 75390

Contacts

Alyssa Boudreau

214-456-2106alyssa.boudreau@utsouthwestern.edu

Jeff Waugh, MD/PhD

jeff.waugh@utsouthwestern.edu

More Information

Sponsor

University of Texas Southwestern Medical Center

Last update posted

Jun 6, 2025

Last verified

Jun, 2025

Keywords

  • Dystonia
  • Control
  • Magnetic Resonance Imagine
  • Genotype
  • Phenotype

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Texas Southwestern Medical Center on 2025-06-06.