Brain network patterns in focal dystonia
Brain Networks in Dystonia
Researchers will use MRI scans and blood tests to try to find brain and genetic differences in adults with focal dystonia, their unaffected relatives, and healthy volunteers.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 141 (estimated) |
| Ages | 21 Years to 80 Years |
| Sex | All |
| Sponsor | Massachusetts Eye and Ear Infirmary Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT03042962 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Adults aged 21 to 80 who are right-handed native English speakers and who either have clinically documented focal dystonia, are an unaffected blood relative of someone with focal dystonia, or are healthy volunteers without neurological, laryngeal, or psychiatric problems.
Not a fit: People who are pregnant, have other neurological or psychiatric disorders, cannot undergo MRI, or do not meet the age, language, or handedness criteria are unlikely to benefit from participating.
Why it matters
Potential benefit: If successful, the work could lead to better understanding of causes and more targeted diagnostic or therapeutic approaches for different forms of focal dystonia.
How similar studies have performed: Prior imaging and genetic work has suggested brain network and genetic contributions to focal dystonia, but comprehensive whole-brain network-plus-genetics approaches are relatively novel and not yet proven.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Boston, Massachusetts
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.