RECRUITING

Dystonia Genotype-Phenotype Correlation

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Dystonia Genotype-Phenotype Correlation: A Study to Identify Additional Genetic Associations That Contribute to Specific Dystonic Phenotypes

Quick Facts

Study Start:2018-03-01
Study Completion:2027-09
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT03428009

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:11 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Dystonia group
  2. * cervical dystonia (50 subjects)
  3. * blepharospasm (25 subjects)
  4. * limb dystonia (50 subjects)
  5. * spasmodic dysphonia (25 subjects)
  6. * segmental dystonia
  7. * multi-focal dystonia
  8. * Any childhood-onset dystonia (25 subjects) Age \> 11 years
  9. * Control group:
  1. * 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

Contacts and Locations

Study Contact

Jessica Clark
CONTACT
972.655.4847
jessica.clark@utsouthwestern.edu
Jeff Waugh, MD, PhD
CONTACT
214-867-6906
Jeff.Waugh@UTSouthwestern.edu

Study Locations (Sites)

University of Texas Southwestern Medical Center
Dallas, Texas, 75390
United States

Collaborators and Investigators

Sponsor: University of Texas Southwestern Medical Center

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2018-03-01
Study Completion Date2027-09

Study Record Updates

Study Start Date2018-03-01
Study Completion Date2027-09

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

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