Scientists scan brains to unlock secrets of dystonia
NCT ID NCT03042962
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study uses brain scans and genetic tests to explore why different forms of focal dystonia develop. Researchers will compare brain activity and structure in people with dystonia, their unaffected relatives, and healthy volunteers. The goal is to identify unique brain markers for each type, which could eventually lead to better diagnosis or treatments.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this study could reveal specific brain markers for different types of focal dystonia, pointing toward better diagnosis or targeted treatments in the future.
- What could go wrong
- This is an observational study, not a treatment trial. It will not directly improve symptoms, and findings may not lead to immediate therapies.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 141 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Aug 2015
- Expected to finish
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Dec 2027
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
Patients with focal dystonia, thier unaffected blood relatives, and healthy volunteers
- Ages
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21 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Accepted
You do not need to have the condition being studied to take part.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: * Patients will have clinically documented focal dystonia * Unaffected relatives of patients with focal dystonia * Healthy controls will be healthy volunteers with a negative history of neurological, laryngeal or psychiatric problems * Age from 21 to 80 years. * Native English speakers. * Right-handedness (based on Edinburgh Handedness Inventory). Exclusion Criteria: * Subjects who are incapable of giving an informed consent. * Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. All women of childbearing potential will have a urine pregnancy test performed, which must be negative for participation in the imaging studies. * Subjects with past or present medical history of (a) neurological problems, such as stroke, movement disorders (other than dystonia in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug depend-ence; (b) psychiatric problems, such as schizophrenia, major and/or bipolar depression, obsessive-compulsive disorder; (c) laryngeal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis. * Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles. The duration of positive effects of botulinum toxin vary from patient to patient but lasts on average for 3-4 months. All patients will be evaluated to ensure that they are fully symptomatic prior to entering the study. * Patients with other forms of dystonia. * Patients who have dystonia symptoms at rest in order to avoid the potential confound of dystonic spasms occurring during the scanning. * To avoid the possibility of confounding effects of drugs acting upon the central nervous system, all study participants will be questioned about any prescribed or over-the-counter medications as part of their initial intake screening. Those patients who receive medication(s) affecting the central nervous system will be excluded from the study. * The patients will be asked whether they have undergone any head, neck, or hand surgeries, which resulted in changes in regional anatomy or innervation. Because brain, hand and laryngeal surgery may potentially lead to the brain structure and function re-organization, all patients with history of brain, hand and/or laryngeal surgery will be excluded from the study. * Subjects who have tattoos, ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve, etc.) that cannot be removed for the purpose of study participation.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Massachusetts Eye and Ear
RECRUITINGBoston, Massachusetts, 02114, United States
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