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Genotype-phenotype Correlation Study of Presymptomatic and Symptomatic DFNA9 Patients

Recruitingn/aAges 18 Years - anyAllJessa Hospital
NCT03716908 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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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What it tests

  • Not listed
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Where

1 site
University of Antwerp
Antwerp, Belgium
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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