Imaging Genetics of Laryngeal Dystonia

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.

NCT Number	NCT03042975
Lead Sponsor	Kristina Simonyan Collaborators: National Institute on Deafness and Other Communication Disorders (NIDCD)
Conditions	Laryngeal Dystonia, Unaffected Relatives of Laryngeal Dystonia Patients, Voice Tremor, Muscle Tension Dysphonia
Enrollment	410 participants
Start Date	2017-01-23
Primary Completion	2028-07-31 (estimated)
Study Completion	2028-07-31 (estimated)
Updated on ClinicalTrials.gov	2025-12-02