Dystonia Genotype-Phenotype Correlation

ConditionsDystonia 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

Trial statusRecruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

Age11+

SponsorUniversity of Texas Southwestern Medical Center

About this trial

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.

Eligibility criteria

This trial accepts healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial population

Investigators will recruit both healthy participants and individuals diagnosed with dystonia of any form for this study. Each Dystonia subject will be matched 1:1 with an unrelated control subject based on: 1) age, +/- 3 years (adults), +/- 1 year (16-18y), +/- 6 months (11-15y); 2) handedness, as determined by the Edinburgh Handedness Inventory, 3) gender, and 4) self-identified racial or ethnic background.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Magnetic Resonance Imaging
Other intervention
Study interventions are minimal risk.

Treatment groups

200 Participants

are divided into 2 treatment groups

Group A: Dystonia group1 intervention

Group B: Control Group1 intervention

Trial outcomes

Primary outcomes

Structural or functional imaging of dystonia and control groups

Identify structural or functional imaging measures that distinguish (a) dystonia patients from matched controls, (b) between clinically-defined forms of dystonia

Time frame

3-5 hours at each study visit

Genetic Analysis of dystonia and control groups

Identify polymorphisms in genes known to cause dystonia that affect the structural or functional imaging measures in dystonia patients and to identify new genes associated with dystonia.

Time frame

30 min

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University of Texas Southwestern Medical Center

Lead sponsor

Massachusetts General Hospital

Collaborator

Source ClinicalTrials.gov

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