Actively Recruiting
Imaging Genetics of Laryngeal Dystonia
Led by Kristina Simonyan · Updated on 2025-12-02
410
Participants Needed
1
Research Sites
601 weeks
Total Duration
On this page
Sponsors
K
Kristina Simonyan
Lead Sponsor
N
National Institute on Deafness and Other Communication Disorders (NIDCD)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Imaging Genetics of Laryngeal Dystonia
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Males and females of diverse racial and ethnic background, with age across the lifespan
- Diagnosed with laryngeal dystonia (adductor or abductor phenotype; familial or sporadic genotype)
- Diagnosed with voice tremor (essential or dystonic)
- Diagnosed with muscle tension dysphonia
- Unaffected relatives of laryngeal dystonia patients with familial, early-onset (≤35 years), or typical onset (≥40 years) laryngeal dystonia
- Native English speakers
- Right-handed individuals
- Normal cognitive status
You will not qualify if you...
- Unable to give informed consent
- Pregnant or breastfeeding women until no longer pregnant or breastfeeding
- History of major neurological problems (e.g., stroke, movement disorders other than LD and VT, brain tumors, traumatic brain injury with loss of consciousness, ataxias, myopathies, myasthenia gravis, demyelinating diseases, alcoholism, drug dependence)
- History of psychiatric problems (e.g., schizophrenia, bipolar depression, obsessive-compulsive disorder)
- History of laryngeal problems (e.g., vocal fold paralysis, paresis, nodules, polyps, carcinoma, chronic laryngitis)
- Patients not symptomatic due to botulinum toxin treatment in laryngeal muscles
- Use of medications affecting the central nervous system
- History of major brain or laryngeal surgery
- Presence of tattoos or ferromagnetic objects in the body that cannot be removed for MRI participation
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Massachusetts Eye and Ear Infirmary
Boston, Massachusetts, United States, 02114
Actively Recruiting
Research Team
K
Kristina Simonyan, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
4
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