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Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

StatusRecruiting
PhaseNot specified
Started
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Record History

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  1. Study completion date: Nov 30, 2021 to Nov 30, 2026v5
  2. Re-verified, no change to tracked fieldsv4
  3. Primary completion date: Sep 30, 2021 to Feb 15, 2020
    • Secondary endpoints: details revised at 4 of 7 entries
    • Study description expanded, about 2 words
    v3
  4. Primary completion date: Mar 30, 2019 to Sep 30, 2021
    • Study completion date: Nov 30, 2019 to Nov 30, 2021
    v2
  5. Study First Submitted
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT03716908
Lead Sponsor Jessa Hospital
Collaborators: University Hospital, Antwerp, Maastricht University Medical Center
Conditions
(from sponsor)		 Vestibular Diseases, DFNA9
Related terms Vestibular Diseases
Enrollment 70 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov