Recruiting

Observational Study

Sponsor:

Massachusetts Eye and Ear Infirmary

Code:

NCT03042962

Conditions

Spasmodic Dysphonia

Singer's Dystonia

Writer's Cramp

Musician's Focal Hand Dystonia

Craniofacial Dystonia

Eligibility Criteria

Sex: All

Age: 21 - 70+

Healthy Volunteers: Accepted

Interventions

MRI

Blood draw

Study Details

Brief summary:

To date, there is only limited knowledge about the distinct neural abnormalities that lead to the development of different forms of focal dystonia. The goal of this study is to dissect the pathophysiological mechanisms underlying this clinical phenomenon using multi-level brain network analysis in patients with focal dystonia.

Conditions

Spasmodic Dysphonia

Singer's Dystonia

Writer's Cramp

Musician's Focal Hand Dystonia

Craniofacial Dystonia

Study ID

NCT03042962

Start date

Aug 1, 2015

Status verified date

Dec, 2025

Completion date

Dec 31, 2027

Anticipated

Primary completion date

Dec 31, 2027

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 21 - 70+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

141 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with dystonia and their unaffected relatives

Patients with dystonia and their unaffected blood relatives will undergo MRI of the brain and blood draw.

Healthy volunteers

Healthy subjects without any neurological, psychiatric or otolaryngological problems will undergo MRI of the brain and blood draw.

Interventions

MRI

Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers

Blood draw

Blood samples will be collected, the DNA will be extracted and banked for genetic studies

Primary outcome measure

  • Incidence of brain structural and functional changes [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Kristina Simonyan, MD, PhD

617-573-6016Simonyan_Lab@MEEI.HARVARD.EDU

Locations

Massachusetts Eye and Ear

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Kristina Simonyan, MD, PhD

617-573-6016simonyan_lab@meei.harvard.edu

Principal Investigator:

Kristina Simonyan, MD, PhD

More Information

Sponsor

Massachusetts Eye and Ear Infirmary

Last update posted

Dec 8, 2025

Last verified

Dec, 2025

Keywords

  • dystonia
  • imaging
  • genetics

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Massachusetts Eye and Ear Infirmary on 2025-12-08.