Recruiting

Observational Study

Sponsor:

Kristina Simonyan

Code:

NCT03042975

Conditions

Laryngeal Dystonia

Unaffected Relatives of Laryngeal Dystonia Patients

Voice Tremor

Muscle Tension Dysphonia

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

Interventions

MRI

Blood draw

Study Details

Brief summary:

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.

Conditions

Laryngeal Dystonia

Unaffected Relatives of Laryngeal Dystonia Patients

Voice Tremor

Muscle Tension Dysphonia

Study ID

NCT03042975

Start date

Jan 23, 2017

Status verified date

Nov, 2025

Completion date

Jul 31, 2028

Anticipated

Primary completion date

Jul 31, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Not accepted

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.

Study Design

Enrollment

410 participants

Anticipated

Interventions and Outcome Measures

Arms

Laryngeal Dystonia

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

Voice tremor

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

Muscle tension dysphonia

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

Interventions

MRI

Functional and structural MRI of the brain will be conducted to identify disorder specific neural markers

Blood draw

Blood samples will be collected, the DNA will be extracted and banked for genetic studies.

Primary outcome measure

  • Brain changes in laryngeal dystonia [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Locations

Massachusetts Eye and Ear Infirmary

Recruiting

Boston, Massachusetts, United States, 02114

Contacts

Principal Investigator:

Kristina Simonyan, MD, PhD

More Information

Sponsor

Kristina Simonyan

Last update posted

Dec 2, 2025

Last verified

Nov, 2025

Keywords

  • dystonia
  • spasmodic dysphonia
  • imaging
  • genetics

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Kristina Simonyan on 2025-12-02.