Brain Networks in Dystonia

December 1, 2025 updated by: Kristina Simonyan, Massachusetts Eye and Ear Infirmary
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

Among the many causes of craniofacial disease are focal dystonias such as blepharospasm (BSP) and oromandibular dystonia (OMD), affecting the eyes and jaw, respectively, as well as Meige Syndrome, which combines features of both. Craniofacial dystonias are poorly understood and have limited treatment options. The investigators hypothesize that craniofacial dystonia (CFD) may be caused by both rare and common genetic variants. To identify neural correlates of different genetic causes of CFD, the investigators will perform structural and functional whole-brain imaging and examine the organization of the neural network in these patients compared to healthy individuals and their unaffected blood relatives.

Study Type

Observational

Enrollment (Estimated)

141

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Recruiting
        • Massachusetts Eye and Ear
        • Contact:
        • Principal Investigator:
          • Kristina Simonyan, MD, PhD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

21 years to 80 years (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Patients with focal dystonia, thier unaffected blood relatives, and healthy volunteers

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Cross-Sectional

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Healthy volunteers
Healthy subjects without any neurological, psychiatric or otolaryngological problems will undergo MRI of the brain and blood draw.
Other: MRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Procedure: Blood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies
Patients with dystonia and their unaffected relatives
Patients with dystonia and their unaffected blood relatives will undergo MRI of the brain and blood draw.
Other: MRI
Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers
Procedure: Blood draw
Blood samples will be collected, the DNA will be extracted and banked for genetic studies

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Incidence of brain structural and functional changes
Time Frame: 5 years
Identify changes in brain activity and gray and white matter in patients with dystonia vs. unaffected relatives vs. healthy controls
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Massachusetts Eye and Ear Infirmary

Collaborators

National Institute of Dental and Craniofacial Research (NIDCR)

Investigators

  • Principal Investigator: Kristina Simonyan, MD, PhD, Massachusetts Eye and Ear Infirmary

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 1, 2015

Primary Completion (Estimated)

December 31, 2027

Study Completion (Estimated)

December 31, 2027

Study Registration Dates

First Submitted

January 31, 2017

First Submitted That Met QC Criteria

February 1, 2017

First Posted (Estimated)

February 3, 2017

Study Record Updates

Last Update Posted (Actual)

December 8, 2025

Last Update Submitted That Met QC Criteria

December 1, 2025

Last Verified

December 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2019P001183
  • R01DE030464 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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