Brain Networks in Dystonia Study

This observational study aims to understand the brain changes that lead to different forms of focal dystonia, a movement disorder that causes involuntary muscle contractions. Researchers will use MRI (magnetic resonance imaging) scans to look at your brain structure and function, and collect blood samples for genetic studies. The goal is to identify specific brain patterns linked to conditions like spasmodic dysphonia (voice spasms), writer's cramp, and musician's focal hand dystonia. This study is looking for people aged 21 to 80 who have focal dystonia, their unaffected relatives, and healthy volunteers. The study will measure brain changes over 5 years. The current status of this study is unclear.

Study design: This is an observational study planning to enroll 141 participants. It is not a treatment study.
What's involved: You would have functional and structural MRI scans of your brain and provide blood samples. The study will measure changes over 5 years.
Compensation: Not stated in the trial record.
Follow-up: Your brain changes will be measured at 5 years.

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Brain Networks in Dystonia

Recruiting

Not specifiedAges 21–80Observational

Massachusetts Eye and Ear Infirmary

~141 participants

Updated 2025-12-08 on ClinicalTrials.gov

What's tested:MRIBlood draw

At a glance

Recruiting sites

1 of 1 listed site is recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Incidence of brain structural and functional changes

Measured over 5 years

Conditions

Spasmodic Dysphonia

Singer's Dystonia

Writer's Cramp

Musician's Focal Hand Dystonia

Craniofacial Dystonia

Blepharospasm Oromandibular Dystonia

Where it's being run

1 sites across 1 states

Massachusetts1

Study leadership

Kristina Simonyan, MD, PhD · PRINCIPAL_INVESTIGATOR · Massachusetts Eye and Ear Infirmary

Who to contact

Kristina Simonyan, MD, PhD

[email protected]

617-573-6016

Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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.

What this trial measures

Incidence of brain structural and functional changes5 years
Identify changes in brain activity and gray and white matter in patients with dystonia vs. unaffected relatives vs. healthy controls

Trialytics