Dystonia Genotype-Phenotype Correlation

Part of paid clinical trials in Dallas, Texas.

Sponsor
University of Texas Southwestern Medical Center
Study ID
NCT03428009
Status
Recruiting
Apply to this trial

Conditions

  • Dystonia
  • Dystonia 10
  • Dystonia 11
  • Dystonia 12
  • Dystonia 19
  • Dystonia 20
  • Dystonia 5
  • Dystonia 6
  • Dystonia 8
  • Dystonia 9
  • Dystonia Disorder
  • Dystonia Lenticularis
  • Dystonia of Head
  • Dystonia, Diurnal
  • Dystonia, Familial
  • Dystonia, Focal
  • Dystonia, Paroxysmal
  • Dystonia, Primary
  • Dystonia, Secondary
  • Dystonia; Idiopathic
  • Dystonia; Orofacial
  • Dystonias, Sporadic

Eligibility Criteria

Sex
ALL
Age
11 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • Magnetic Resonance Imaging — OTHER
    Study interventions are minimal risk.

Study Details

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.

Key Dates

Start date
Mar 1, 2018
Status verified
Jun 2025
Primary completion
Sep 30, 2027
Completion
Sep 30, 2027

Study Design

Enrollment
200 participants (estimated)

Arms

  • Arm: 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.
  • Arm: 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.

Primary Outcome Measure

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

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Texas Southwestern Medical CenterDallasTexas75390
Alyssa Boudreau
[email protected]
214-456-2106
Jeff Waugh, MD/PhD
[email protected]

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By research site
University of Texas Southwestern Medical Center· Dallas, TX

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