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RECRUITING
NCT03042975

Imaging Genetics of Laryngeal Dystonia

Sponsor: Kristina Simonyan

View on ClinicalTrials.gov

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.

Key Details

Gender

All

Age Range

Any - Any

Study Type

OBSERVATIONAL

Enrollment

410

Start Date

2017-01-23

Completion Date

2028-07-31

Last Updated

2025-12-02

Healthy Volunteers

No

Interventions

OTHER

MRI

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

PROCEDURE

Blood draw

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

Locations (1)

Massachusetts Eye and Ear Infirmary

Boston, Massachusetts, United States