Actively Recruiting

Age: 21Years - 80Years
All Genders
Healthy Volunteers
ID03042962

Brain Networks in Dystonia A Study of Neural and Genetic Factors Using MRI and Blood Analysis

Led by Massachusetts Eye and Ear Infirmary · Updated on 2025-12-08

141

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

M

Massachusetts Eye and Ear Infirmary

Lead Sponsor

N

National Institute of Dental and Craniofacial Research (NIDCR)

Collaborating Sponsor

AI-Summary

What this Trial Is About

Researchers are investigating the underlying brain network changes in patients with focal dystonia, a condition affecting specific muscles such as those controlling the eyes and jaw, including blepharospasm, oromandibular dystonia, and Meige Syndrome. The study aims to understand the neural and genetic factors contributing to these craniofacial dystonias by comparing affected patients, their unaffected blood relatives, and healthy volunteers. This research addresses the limited knowledge and treatment options for these conditions by exploring structural and functional brain differences. Participants include patients with focal dystonia, their unaffected blood relatives, and healthy adults without neurological or psychiatric conditions. All participants will undergo brain imaging using functional and structural MRI to identify disorder-specific neural markers. Blood samples will be collected for genetic analysis. These procedures will help researchers examine brain network organization and genetic variants possibly linked to craniofacial dystonia. During the study, participants will have MRI scans and blood draws. Researchers will assess brain structural and functional changes over a five-year period. The study includes adults aged 21 to 80 who are right-handed native English speakers. Safety is ensured by excluding individuals with certain medical histories or conditions. The goal is to measure neural abnormalities associated with dystonia and understand their development. Participation may last several years due to the long-term outcome tracking.

CONDITIONS

Brief Title

Brain Networks in Dystonia

Who Can Participate

Age: 21Years - 80Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients with clinically documented focal dystonia
  • Unaffected relatives of patients with focal dystonia
  • Healthy volunteers with no neurological, laryngeal, or psychiatric problems
  • Age between 21 and 80 years
  • Native English speakers
  • Right-handedness based on Edinburgh Handedness Inventory
Not Eligible

You will not qualify if you...

  • Unable to give informed consent
  • Pregnant or breastfeeding women until no longer pregnant or breastfeeding; negative pregnancy test required
  • History of neurological problems other than dystonia, including stroke, brain tumors, traumatic brain injury, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, or drug dependence
  • History of psychiatric disorders such as schizophrenia, major or bipolar depression, or obsessive-compulsive disorder
  • History of laryngeal problems like vocal fold paralysis, nodules, polyps, carcinoma, or chronic laryngitis
  • Patients fully treated with botulinum toxin injections and not symptomatic
  • Patients with other forms of dystonia
  • Patients with dystonia symptoms at rest
  • Use of medications affecting the central nervous system
  • History of head, neck, or hand surgeries affecting anatomy or innervation
  • Presence of tattoos or ferromagnetic objects in the body incompatible with MRI participation

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - 1 day

Participants undergo MRI brain scans and blood draws to identify neural and genetic markers related to dystonia.

1 visit (in-person)

Long-term Monitoring

Duration - Up to 5 years

Participants are observed over time to assess the incidence of brain structural and functional changes.

Follow-up visits may occur as needed

Trial Site Locations

Total: 1 location

1

Massachusetts Eye and Ear

Boston, Massachusetts, United States, 02114

Actively Recruiting

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Research Team

K

Kristina Simonyan, MD, PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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Published Research Related To This Trial

Functional Genomic Analyses of Mendelian and Sporadic Disease Identify Impaired eIF2α Signaling as a Generalizable Mechanism for Dystonia.

Joseph E Rittiner, Zachary F Caffall, Ricardo Hernández-Martinez...

https://pubmed.ncbi.nlm.nih.gov/27939583

Laryngeal Dystonia: Multidisciplinary Update on Terminology, Pathophysiology, and Research Priorities.

Kristina Simonyan, Julie Barkmeier-Kraemer, Andrew Blitzer...

https://pubmed.ncbi.nlm.nih.gov/33858994