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.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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)
Primary outcome measure(s)
hearing threshold — 1 year pure tone audiometry, decibel hearing loss (dB HL)
video HIT — 1 year video Head Impulse test, gain (eye movement versus head movement)
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
We use cookies to analyse site traffic and improve your experience. With your consent, we may also use cookies for advertising. You can change your choice at any time.
