410 Participants Needed

Imaging Genetics of Laryngeal Dystonia

AH
Kristina Simonyan, MD, PhD profile photo
Overseen ByKristina Simonyan, MD, PhD
Age: Any Age
Sex: Any
Trial Phase: Academic
Sponsor: Kristina Simonyan
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)

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?

KS

Kristina Simonyan, MD, PhD

Principal Investigator

Massachusetts Eye and Ear Infirmary

Are You a Good Fit for This Trial?

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
See 7 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Imaging and Genetic Testing

Participants undergo MRI of the brain and a blood draw for genetic testing

5 years
Multiple visits as required for imaging and testing

Follow-up

Participants are monitored for safety and effectiveness after imaging and genetic testing

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

  • Blood draw
  • MRI
How Is the Trial Designed?
4Treatment groups
Experimental Treatment
Group I: Voice tremorExperimental Treatment2 Interventions
Group II: Unaffected relatives of laryngeal dystonia patientsExperimental Treatment2 Interventions
Group III: Muscle tension dysphoniaExperimental Treatment2 Interventions
Group IV: Laryngeal DystoniaExperimental Treatment2 Interventions

Find a Clinic Near You

Who Is Running the Clinical Trial?

Kristina Simonyan

Lead Sponsor

Trials
4
Recruited
740+

National Institute on Deafness and Other Communication Disorders (NIDCD)

Collaborator

Trials
377
Recruited
190,000+
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