Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

  • End date
    Nov 30, 2026
  • participants needed
  • sponsor
    Jessa Hospital
Updated on 15 February 2022
hereditary hearing loss


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.


Systematic review of the genotype-phenotype correlation studies in P51S carriers has shown an underrepresentation of presymptomatic affected subjects and the calculation of vestibular deterioration were based on just one vestibular parameter, whereas the combined evaluation of a complete vestibular test battery, covering the complete vestibular sensitivity range and all labyrinthine compartments separately, is nowadays considered standard practice in determining more accurate assessment of the vestibular function.

For this reason, a prospective cross-sectional study on pre- as well as symptomatic DFNA9 patients carrying the Pro51Ser (P51S) mutation in COCH gene is being carried out, in order to gain more realistic data on vestibular dysfunction, consisting of pure tone audiometry and a comprehensive vestibular test battery, including electro- or videonystagmography (VNG), Cand O-Vestibular-evoked myogenic potential (VEMP) tests, video Head Impulse Test (vHIT) and questionnaires (DHI (Dizziness handicap Index), oscillopsia questionnaire (OS), Quality of Life Questionnaire (EQ-5D-5L), activities-specific balance confidence (ABC) scale.

Condition Vestibular Diseases, DFNA9
Clinical Study IdentifierNCT03716908
SponsorJessa Hospital
Last Modified on15 February 2022


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Inclusion Criteria

subject must be 18 year of older
subject is a family member of the family pedigree's proband(s) carrying a P51S COCH mutation

Exclusion Criteria

subject is younger than 18 years
subject is not a family member of the pedigree's proband(s) carrying a P51S
subject cannot undergo investigations (medical and/or mental reasons)
subject is not willing to be enrolled into the study
subject suffers other concomitant middle or inner ear disease
subject has undergone middle ear or inner ear surgery
subject suffers other concomitant vestibular disease than DFNA9
subject has undergone vestibular surgery or other non-invasive vestibular treatment (gentamicin intratympanal injections for example)
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