Study of hearing and balance issues in DFNA9 patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the correlation between genotype and phenotype in patients with DFNA9, focusing on both presymptomatic and symptomatic carriers of the Pro51Ser mutation in the COCH gene. By utilizing a comprehensive vestibular test battery, including advanced assessments like videonystagmography and vestibular-evoked myogenic potentials, the study seeks to provide a more accurate evaluation of vestibular dysfunction. The research will also incorporate pure tone audiometry and various questionnaires to assess the impact on quality of life and balance. This approach aims to fill the gaps left by previous studies that did not adequately represent presymptomatic individuals or utilize a complete vestibular assessment.

Why it matters

Who can join: the full rules

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)

Where it's running

• University of Antwerp
  Antwerp, Belgium Recruiting

Study contacts

• Study coordinator: sebastien PF JanssensdeVarebeke, MD
• Email: sebastien.janssensdevarebeke@jessazh.be
• Phone: 011337420

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.