Brain network patterns in focal dystonia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational project combines structural and functional whole-brain MRI with blood-based genetic testing to map brain network organization in people with focal dystonia. Multi-level network analyses will compare patients with different focal dystonia types to unaffected blood relatives and healthy controls to identify neural signatures linked to disease and genetic variation. Unaffected relatives are included to help separate inherited genetic effects from changes caused by having the condition, and participants are aged 21–80 and right-handed native English speakers. Findings will be used to relate specific connectivity patterns to clinical subtypes such as craniofacial dystonia, writer's cramp, musician's focal hand dystonia, and spasmodic dysphonia.

Why it matters

Who can join: the full rules

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.

Where it's running

• Massachusetts Eye and Ear
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Kristina Simonyan, MD, PhD — Massachusetts Eye and Ear Infirmary
• Study coordinator: Kristina Simonyan, MD, PhD
• Email: Simonyan_Lab@MEEI.HARVARD.EDU
• Phone: 617-573-6016

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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• Deep Brain Stimulation for Voice Disorders in Dystonia and Tremor

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• Video-based training for managing writer's cramp

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.