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Search / Trial NCT03042975

Imaging Genetics of Laryngeal Dystonia

Launched by KRISTINA SIMONYAN · Feb 1, 2017

Trial Information

Current as of July 04, 2025

Recruiting

Keywords

Dystonia Spasmodic Dysphonia Imaging Genetics

ClinConnect Summary

This clinical trial, titled "Imaging Genetics of Laryngeal Dystonia," is exploring the relationship between genetic factors and brain changes in people with laryngeal dystonia, a condition that affects voice control. The researchers want to understand how differences in genes can lead to variations in brain function and contribute to symptoms like voice tremor and muscle tension dysphonia. By using advanced imaging techniques and DNA testing, they aim to find out more about the genetic risks and brain mechanisms involved in this disorder, which could lead to better ways to diagnose and manage laryngeal dystonia and help family members who may be at risk.

To participate in this study, individuals must be either patients with laryngeal dystonia, voice tremor, or muscle tension dysphonia, or unaffected relatives of those patients. Eligible participants should be able to provide informed consent, be right-handed, and have normal cognitive function. The trial is open to people of all ages and backgrounds, but it excludes individuals with certain neurological, psychiatric, or laryngeal conditions. Participants can expect to undergo imaging and genetic testing, which will help researchers gain valuable insights into the condition. This study is currently recruiting, and findings could significantly improve how laryngeal dystonia is detected and treated in the future.

Gender

ALL

Eligibility criteria

  • Inclusion criteria:
  • 1. Males and females of diverse racial and ethnic background, with age across the lifespan;
  • 2. Laryngeal Dystonia patients
  • phenotype: adductor or abductor
  • genotype: familial or sporadic
  • 3. Voice Tremor patients
  • essential or
  • dystonic
  • 4. Muscle tension dysphonia patients
  • 5. Unaffected relatives of laryngeal dystonia patients with
  • familial laryngeal dystonia
  • early-onset laryngeal dystonia (onset at ≤ 35 y.o.)
  • typical onset laryngeal dystonia (onset at ≥ 40 y.o.)
  • 6. Native English speakers.
  • 7. Right-handedness.
  • 8. Normal cognitive status.
  • Exclusion criteria:
  • 1. Subjects who are incapable of giving informed consent.
  • 2. Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding.
  • 3. Subjects with past or present medical history of (a) major neurological problems, such as stroke, movement disorders (other than LD and VT in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug dependence; (b) psychiatric problems, such as schizophrenia, bipolar depression, obsessive-compulsive disorder; (c) laryn¬geal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis.
  • 4. Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles.
  • 5. Subjects who receive medication(s) affecting the central nervous system.
  • 6. Subjects with a history of major brain and/or laryngeal surgery.
  • 7. Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be removed for imaging study participation.

About Kristina Simonyan

Kristina Simonyan is a dedicated clinical trial sponsor with a focus on advancing innovative therapeutic solutions through rigorous research and development. With extensive expertise in the pharmaceutical and biotechnology sectors, she leads a team committed to ensuring the highest standards of clinical practices and regulatory compliance. Her strategic approach emphasizes collaboration with research institutions and healthcare professionals to facilitate the successful design, execution, and analysis of clinical trials. By prioritizing patient safety and data integrity, Kristina Simonyan aims to contribute significantly to the scientific community and improve healthcare outcomes.

Locations

Boston, Massachusetts, United States

Patients applied

0 patients applied

Trial Officials

Kristina Simonyan, MD, PhD

Principal Investigator

Massachusetts Eye and Ear Infirmary

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

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