Imaging Genetics of Laryngeal Dystonia

Status: Recruiting
Location: See location...
Intervention Type: Procedure, Other
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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.

Locations
United States
Massachusetts
Massachusetts Eye and Ear Infirmary
RECRUITING
Boston
Contact Information
Primary
Kristina Simonyan, MD, PhD
Simonyan_Lab@MEEI.HARVARD.EDU
617-573-6016
Time Frame
Start Date: 2017-01-23
Estimated Completion Date: 2027-07-31
Participants
Target number of participants: 410
Treatments
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.
Authors
Kristina Simonyan, Steven Frucht
Sponsors
Collaborators: National Institute on Deafness and Other Communication Disorders (NIDCD)
Leads: Kristina Simonyan

This content was sourced from clinicaltrials.gov