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ID03042975

Imaging Genetics of Laryngeal Dystonia

Led by Kristina Simonyan · Updated on 2025-12-02

410

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

Sponsors

K

Kristina Simonyan

Lead Sponsor

N

National Institute on Deafness and Other Communication Disorders (NIDCD)

Collaborating Sponsor

AI-Summary

What this Trial Is About

Laryngeal dystonia (LD), also known as spasmodic dysphonia, is a condition causing involuntary spasms in the muscles of the voice box that affect speech production. Researchers are investigating how genetic risk factors contribute to brain changes and different forms of LD, such as familial and sporadic types. This study aims to improve understanding of the connection between gene variations and brain abnormalities using advanced imaging, genetics, and clinical testing to help improve diagnosis and clinical management of LD and related voice disorders. Participants in this observational study include people with LD, voice tremor, muscle tension dysphonia, and unaffected relatives of LD patients. Each participant will undergo brain MRI scans and blood draws to collect DNA for genetic analysis. The study uses a cross-disciplinary approach combining imaging genetics and machine learning to identify neural and genetic markers that differentiate LD types, predict risk in relatives, and validate gene mutations linked to LD. During the study, researchers will assess brain changes and genetic data over a 5-year period. Participants will have imaging and blood samples collected for analysis along with clinical and behavioral testing. The main outcome measures are brain changes related to LD and the genes responsible for the disorder. This study aims to establish objective biomarkers for early detection, diagnosis, and risk assessment for LD and its related conditions.

CONDITIONS

Brief Title

Imaging Genetics of Laryngeal Dystonia

Who Can Participate

All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Males and females of diverse racial and ethnic backgrounds, any age
  • Diagnosed with laryngeal dystonia (adductor or abductor phenotype; familial or sporadic genotype)
  • Diagnosed with voice tremor (essential or dystonic)
  • Diagnosed with muscle tension dysphonia
  • Unaffected relatives of laryngeal dystonia patients with familial LD or early/typical onset
  • Native English speakers
  • Right-handed individuals
  • Normal cognitive status
Not Eligible

You will not qualify if you...

  • Unable to give informed consent
  • Pregnant or breastfeeding women until no longer pregnant or breastfeeding
  • History of major neurological problems other than LD or voice tremor
  • History of psychiatric disorders like schizophrenia, bipolar depression, or OCD
  • Laryngeal problems such as vocal fold paralysis, nodules, polyps, carcinoma, or chronic laryngitis
  • Currently asymptomatic due to botulinum toxin treatment
  • Use of medications affecting the central nervous system
  • History of major brain or laryngeal surgery
  • Presence of tattoos or ferromagnetic objects that prevent MRI participation

AI-Screening

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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 - Single timepoint

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

1 visit (in-person) for MRI and blood collection

Long-term Monitoring

Duration - Up to 5 years

Participants are observed for up to 5 years to monitor brain changes and genetic factors related to laryngeal dystonia.

Periodic assessments depending on study protocol

Trial Site Locations

Total: 1 location

1

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, United States, 02114

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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

4

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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