Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

Recruiting now

Conditions studied: Vestibular Diseases, DFNA9

In brief

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.

Key facts

Study ID

NCT03716908

Run by

Jessa Hospital

People needed

70

Starts

2018-06-01

Expected to finish

2026-11-30

Last updated by the study team

2021-10-28

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

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

You may not qualify if…

• 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)

Where it is running

• University of Antwerp — Antwerp, Belgium (enrolling)

Full record on ClinicalTrials.gov

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