Characterization of Clinical Phenotypes of Laryngeal Dystonia and Voice Tremor

NCT05150106 | Recruiting

• 1 other identifier: 2021P003143
• Study Type: observational
• Target: 165
• Locations: 1 country
• Sites: 1

Brief Summary

The researchers will systematically evaluate current and novel clinical voice assessment tools and measures to elucidate distinct clinical phenotypes of those with laryngeal dystonia and voice tremor.

Conditions

Laryngeal Dystonia; Spasmodic Dysphonia; Tremor

Outcome Measures

Primary Outcomes (1)

• Differences in voice symptoms

  Clinical phenotypic features and speech structure kinematics that distinguish between laryngeal dystonia and voice tremor

  5 years

Study Arms (3)

Laryngeal dystonia

Patients with laryngeal dystonia (or spasmodic dysphonia)

Other: Clinical assessments of laryngeal function

Voice tremor

Patients with voice tremor (essential or dystonic)

Other: Clinical assessments of laryngeal function

Healthy controls

Healthy research volunteers

Other: Clinical assessments of laryngeal function

Interventions

Clinical assessments of laryngeal function OTHER

Participants will undergo acoustic, aerodynamic, respiratory kinematic, nasoendoscopic, and laryngeal EMG recordings, as well as real-time MRI of the upper airway for comprehensive characterization of shared and distinct features of laryngeal dystonia and voice tremor.

Healthy controls; Laryngeal dystonia; Voice tremor

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with laryngeal dystonia Patients with voice tremor Healthy control individuals

You may qualify if:

• Males and females of diverse racial and ethnic backgrounds;
• Age 18-80 years;
• Native English speakers;
• Right-handed;
• Normal cognitive status;
• Patients will have laryngeal dystonia or voice tremor;
• Healthy controls will be healthy individuals without neurological, psychiatric or otolaryngological problems.

You may not qualify if:

• Subjects who are incapable of giving informed consent;
• Pregnant or breastfeeding women until a time when they are no longer pregnant or breastfeeding. All women of childbearing potential will have a urine pregnancy test performed before MRI, which must be negative for participation in the imaging studies;
• Subjects with a past or present medical history of (a) neurological problems, such as stroke, movement disorders (other than specified LD and VT in the patient groups), brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases; (b) psychiatric problems, such as schizophrenia, bipolar depression, obsessive-compulsive disorder, alcoholism, drug dependence; (c) laryngeal problems, such as vocal fold paralysis, paresis, vocal fold nodules and polyps, carcinoma, chronic laryngitis;
• Patients with any other form of dystonia;
• Patients who have dystonia symptoms at rest or have a presence of mirror dystonia;
• Patients who are not symptomatic due to treatment with botulinum toxin injections into the affected muscles. The duration of positive effects of botulinum toxin varies from patient to patient but lasts, on average, for 3-4 months. All patients will be evaluated to ensure that they are fully symptomatic and are at least 3 months post-injection before participation;
• To avoid the confounding effect of centrally acting drugs, all study participants will be questioned about any prescribed or over-the-counter medications as part of their initial screening. Those patients who receive medication(s) affecting the central nervous system will be excluded;
• Patients will be asked whether they have undergone any head or neck surgery, which resulted in changes in regional anatomy or innervation. Because brain or laryngeal surgery may potentially lead to brain structure and function re-organization, all patients with such a history will be excluded;
• Subjects who have certain tattoos and ferromagnetic objects in their bodies (e.g., implanted stimulators, surgical clips, prosthesis, artificial heart valve) that cannot be removed for MRI studies.

Sponsors & Collaborators

• Massachusetts Eye and Ear Infirmary: lead
• University of Utah: collaborator

Study Sites (1)

Massachusetts Eye and Ear and University of Utah

Boston, Massachusetts, 02114, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITHOUT DNA

Voice and speech measures

MeSH Terms

Conditions

Dysphonia; Tremor

Condition Hierarchy (Ancestors)

Voice Disorders; Laryngeal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Dyskinesias

Study Officials

• Kristina Simonyan, MD, PhD

  Massachusetts Eye and Ear

  STUDY DIRECTOR

Central Study Contacts

Kristina Simonyan, MD, PhD

CONTACT

617-573-6016; simonyan_lab@meei.harvard.edu

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Otolaryngology - Head and Neck Surgery

Study Record Dates

• First Submitted: November 27, 2021
• First Posted: December 8, 2021
• Study Start: November 7, 2022
• Primary Completion (Estimated): August 31, 2027
• Study Completion (Estimated): August 31, 2027
• Last Updated: December 2, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)