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Taking people in United StatesNo phase

Imaging Genetics of Laryngeal Dystonia

Key facts

Who runs it
Kristina Simonyan
Where
Boston, United StatesSee the site
Trial code
Status
Recruiting
People taking part
410 people, planned
Started
23 Jan 2017
Expected to end
31 Jul 2028
Type of study
Observational, 4 groups
Treatments tested
  • MRI
  • Blood draw
Record updated
2 December 2025

Who can take part

Sex
Women and men
Healthy volunteers
Cannot take part

The registry criteria, word for word

Show all 15 criteriaShow less

Who can take part

  • Males and females of diverse racial and ethnic background, with age across the lifespan
  • Laryngeal Dystonia patients; phenotype: adductor or abductor; genotype: familial or sporadic
  • Voice Tremor patients; essential or; dystonic
  • Muscle tension dysphonia patients
  • 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.)
  • Native English speakers
  • Right-handedness
  • Normal cognitive status

Who cannot take part

  • Patients who are not symptomatic due to treatment with botulinum toxin injections into the laryngeal muscles
  • Subjects who receive medication(s) affecting the central nervous system
  • 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
  • Subjects with a history of major brain and/or laryngeal surgery
  • Subjects who are incapable of giving informed consent
  • Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding
  • Subjects who have tattoos, ferromagnetic objects in their bodies that cannot be removed for imaging study participation

Where in United States

  • Massachusetts Eye and Ear InfirmaryBoston, United StatesContact: Kristina Simonyan, MD, PhDTaking people

About the trial

What the trial wants to find out

The contribution of genetic risk factors to the development of focal dystonias is evident. However, understanding of how variations in the causative gene expression lead to variations in brain abnormalities in different phenotypes of dystonia (e.g., familial, sporadic) remains limited. The research program of the investigators is set to determine the relationship between brain changes and genetic risk factors in laryngeal dystonia (or spasmodic dysphonia). The researchers use a novel approach of combined imaging genetics, next-generation DNA sequencing, and clinical-behavioral testing. The use of a cross-disciplinary approach as a tool for the discovery of the mediating neural mechanisms that bridge the gap from DNA sequence to the pathophysiology of dystonia holds a promise for the understanding of the mechanistic aspects of brain function affected by risk gene variants, which can be used reliably for the discovery of associated genes and neural integrity markers for this disorder. The expected outcome of this study may lead to better clinical management of this disorder, including its improved detection, accurate diagnosis, and assessment of the risk of developing dystonia in family members.

The 4 groups in the trial

  • Laryngeal Dystonia

    Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

    Treatment: MRI and Blood draw

  • Unaffected relatives of laryngeal dystonia patients

    Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

    Treatment: MRI and Blood draw

  • Voice tremor

    Patients with voice tremor will undergo an MRI of the brain and a blood draw.

    Treatment: MRI and Blood draw

  • Muscle tension dysphonia

    Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.

    Treatment: MRI and Blood draw

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Record updated
2 December 2025