Observational Study of Dystonia Genotype-Phenotype Correlation

This study aims to understand how genetic changes linked to dystonia affect brain structure and function. Researchers will also look for new genes related to dystonia in people with idiopathic (unknown cause) dystonia. The study involves comparing people with different types of dystonia to healthy volunteers. If you join, you would have up to two visits, which include a clinical assessment, medical and family history, task training, an MRI scan (a type of imaging that uses magnets and radio waves to create pictures of organs and structures inside the body), and a blood draw for genetic analysis. Each visit will take 3-5 hours. The study is looking for 200 participants aged 11 and older, of all genders. The current recruitment status is unclear.

Study design
This is an observational study, meaning participants are not given a specific treatment, but rather observed. It aims to enroll 200 participants.
What's involved
Participants will have up to two study visits, each lasting 3-5 hours. These visits include a clinical assessment, medical and family history, task training, an MRI, and a blood draw.
Compensation
Not stated in the trial record.
Follow-up
Not specified.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT03428009

Dystonia Genotype-Phenotype Correlation

Recruiting
Not specifiedAges 11+Observational
University of Texas Southwestern Medical Center
~200 participants
Updated 2025-06-06 on ClinicalTrials.gov
What's tested:Magnetic Resonance Imaging

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Structural or functional imaging of dystonia and control groups
Measured over 3-5 hours at each study visit
+1 more outcome measured
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

NCT03428009

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

  • University of Texas Southwestern Medical Center

    Dallas, Texasstudy coordinator listed

    Recruiting

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

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Eligibility criteria

Inclusion

Dystonia group
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:

Exclusion

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
  • Structural or functional imaging of dystonia and control groups3-5 hours at each study visit

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

  • Genetic Analysis of dystonia and control groups30 min

    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.