An observational study in Dystonia, Dystonia; Idiopathic and Dystonia, Primary, sponsored by University of Texas Southwestern Medical Center. Recruiting at 1 site in United States. Open to participants aged 11 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-09-23.
Sponsored by University of Texas Southwestern Medical Center · Observational
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.
213 studies on the registry are indexed under Dystonia; 54 are open to participants now.
This study's planned enrollment of 200 is above the median of 78 across 90 observational studies indexed under Dystonia.
Browse Dystonia studies →University of Texas Southwestern Medical Center is the lead sponsor of 1,010 studies on the registry; 199 are open to participants now.
Of its 139 completed or terminated interventional studies of FDA-regulated products, 105 (76%) have results posted.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
General Exclusion (both Dystonia and Control groups):
Inclusion Criteria:
Previous diagnosis of dystonia which include but is not limited to:
Any childhood-onset dystonia (25 subjects) Age > 11 years
No prior dystonia diagnosis (175 subjects) Age > 11 years
Exclusion Criteria:
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
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis C tests
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Other: Magnetic Resonance Imaging
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.
Other: Magnetic Resonance Imaging
Study interventions are minimal risk.
Also known as: Blood Draw for Genetic testing, Clinical Assessments
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
Plan to share: Yes — Data and/or sample collection was specifically for research and subjects indicated that their data could be shared with other scientists. Investigators will only send coded data and/or samples with no identifying information. In addition, all whole blood for DNA samples collected for this protocol will be sent for DNA sequencing and genetic analysis at Massachusetts General Hospital in Dr. Nutan Sharma's lab. In addition at Massachusetts General Tissue Culture Core in the Dystonia Partners Research Biobank investigators will contribute the subject's deidentified DNA sample from this protocol for use in future genetic research regarding dystonia.
Time frame: DNA samples will be stored indefinitely
No publications or documents are linked to this record.
Started Mar 2018 (actual). Primary completion is estimated for Sep 2027, 114 months after the start.
Of 27 observational studies under Dystonia, half reached primary completion within 72 months of starting (the median), counting those still running; a quarter within 58 and three quarters within 188. This study's planned 114 months is above that.
How these figures are worked out, and which studies are left out of them.
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