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Imaging Genetics of Laryngeal Dystonia

NCT03042975 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 410

Last updated 2025-12-02

No results posted yet for this study

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.

Conditions

  • Laryngeal Dystonia
  • Unaffected Relatives of Laryngeal Dystonia Patients
  • Voice Tremor
  • Muscle Tension Dysphonia

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.

Sponsors & Collaborators

  • National Institute on Deafness and Other Communication Disorders (NIDCD)

    collaborator NIH

  • Kristina Simonyan

    lead OTHER

Principal Investigators

  • Kristina Simonyan, MD, PhD · Massachusetts Eye and Ear Infirmary

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-01-23
Primary Completion
2028-07-31
Completion
2028-07-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03042975 on ClinicalTrials.gov