Imaging Genetics of Laryngeal Dystonia
What You Need to Know Before You Apply
What is the purpose of this trial?
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.
Who Is on the Research Team?
Kristina Simonyan, MD, PhD
Principal Investigator
Massachusetts Eye and Ear Infirmary
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Imaging and Genetic Testing
Participants undergo MRI of the brain and a blood draw for genetic testing
Follow-up
Participants are monitored for safety and effectiveness after imaging and genetic testing
What Are the Treatments Tested in This Trial?
Interventions
- Blood draw
- MRI
Find a Clinic Near You
Who Is Running the Clinical Trial?
Kristina Simonyan
Lead Sponsor
National Institute on Deafness and Other Communication Disorders (NIDCD)
Collaborator