Imaging Genetics of Laryngeal Dystonia

Recruiting in Palo Alto (17 mi)

Overseen by Kristina Simonyan, MD, PhD

Age: Any Age

Sex: Any

Travel: May Be Covered

Time Reimbursement: Varies

Trial Phase: Academic

Recruiting

Sponsor: Kristina Simonyan

No Placebo Group

Trial Summary

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.

Research Team

Kristina Simonyan, MD, PhD

Principal Investigator

Massachusetts Eye and Ear Infirmary

Eligibility Criteria

Inclusion Criteria

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

Treatment Details

Interventions

• Blood draw (Procedure)
• MRI (Procedure)

Participant Groups

Group I: Voice tremor Experimental Treatment 2 Interventions

Patients with voice tremor will undergo an MRI of the brain and a blood draw.

Group II: Unaffected relatives of laryngeal dystonia patients Experimental Treatment 2 Interventions

Unaffected relatives of patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

Group III: Muscle tension dysphonia Experimental Treatment 2 Interventions

Patients with muscle tension dysphonia will undergo an MRI of the brain and a blood draw.

Group IV: Laryngeal Dystonia Experimental Treatment 2 Interventions

Patients with laryngeal dystonia will undergo an MRI of the brain and a blood draw.

Find a Clinic Near You

Research Locations Nearby Select from list below to view details:

Massachusetts Eye and Ear Infirmary Boston, MA

Who Is Running the Clinical Trial?

Kristina Simonyan

Lead Sponsor

Trials

4

Patients Recruited

740+

National Institute on Deafness and Other Communication Disorders (NIDCD)

Collaborator

Trials

377

Patients Recruited

190,000+