Exploring genetic and brain imaging factors in laryngeal dystonia

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study investigates the relationship between genetic risk factors and brain abnormalities in patients with laryngeal dystonia, a condition characterized by involuntary spasms affecting speech production. By employing advanced imaging techniques, next-generation DNA sequencing, and clinical-behavioral assessments, the researchers aim to identify neural markers that differentiate between various clinical phenotypes and genotypes of the disorder. The study also seeks to discover early predictive markers of laryngeal dystonia in at-risk individuals and validate associated gene mutations. This cross-disciplinary approach promises to enhance understanding of the underlying mechanisms of dystonia and improve diagnostic accuracy.

Why it matters

Who can join: the full rules

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.

Where it's running

• Massachusetts Eye and Ear Infirmary
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Kristina Simonyan, MD, PhD — Massachusetts Eye and Ear Infirmary
• Study coordinator: Kristina Simonyan, MD, PhD
• Email: Simonyan_Lab@MEEI.HARVARD.EDU
• Phone: 617-573-6016

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• How gentle vibration to the throat affects brain activity in people with laryngeal dystonia

  This study will test whether a short session of noninvasive vibro-tactile stimulation to the larynx can improve voice symptoms and alter brain network activity in adults with laryngeal dystonia.

  Recruiting University of Minnesota · Minneapolis, Minnesota · NCT07443891

• Neck vibration plus voice therapy for muscle tension dysphonia

  This trial will test whether adding gentle translaryngeal (neck) vibration to standard voice therapy helps adults with muscle tension dysphonia improve their voice.

  Recruiting Phase 3 Texas Christian University · Fort Worth, Texas · NCT07145086

• Transcranial direct current stimulation for laryngeal dystonia

  This trial will try transcranial direct current stimulation (tDCS) in people with laryngeal dystonia to see if it improves voice control.

  Recruiting Yale University · New Haven, Connecticut · NCT06830174

• Voice therapy guided by the RTSS-Voice standardized coding system

  This project will test whether using a standardized coding system (RTSS-Voice) to document voice therapy sessions helps people with muscle tension dysphonia improve their voice.

  Recruiting at 5 sites Massachusetts General Hospital · Atlanta, Georgia and 4 other locations · NCT06152627

• Investigating Autonomic Dysfunction in Voice Disorders

  This study is testing a new therapy that focuses on the nervous system to see if it helps people with voice disorders feel better compared to those without the disorder.

  Recruiting University Ghent · Ghent, East-Flanders · NCT06100601

• Biofeedback and voice therapy for vocal hyperfunction

  This study is testing if adding biofeedback to regular voice therapy can help people with vocal hyperfunction improve their voice use in everyday life.

  Recruiting at 2 sites Early Phase 1 Massachusetts General Hospital · Boston, Massachusetts and 1 other locations · NCT05970562

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.