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Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

NCT03716908 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 70

Last updated 2021-10-28

No results posted yet for this study

Summary

DFNA9 (Deafness Autosomal Dominant 9) is an autosomal dominant hereditary hearing loss which is associated with vestibular deterioration. The most recent genotype-phenotype correlation studies have been conducted more than 15 years ago. Meanwhile, emerging and valuable vestibular tests have been added to the vestibular test battery. These tests were not available at the time of the correlation studies. The aim of this study is to carry out a prospective cross-sectional study on symptomatic and presymptomatic affected carriers of the Pro51Ser (P51S) Coagulation Factor C Homology (COCH) mutation in order to correlate vestibular data using the complete vestibular test battery with the known data on hearing and vestibular function in relation to age.

Conditions

  • Vestibular Diseases
  • DFNA9

Sponsors & Collaborators

  • University Hospital, Antwerp

    collaborator OTHER

  • Maastricht University Medical Center

    collaborator OTHER

  • Jessa Hospital

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-06-01
Primary Completion
2020-02-15
Completion
2026-11-30

Countries

  • Belgium

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 NCT03716908 on ClinicalTrials.gov