Study of hearing and balance issues in DFNA9 patients
Evaluation of Hearing and Vestibular Function in Presymptomatic and Symptomatic DFNA9 Patients Carrying the Pro51Ser (P51S) Mutation in the COCH Gene.
Jessa Hospital · NCT03716908
This study is testing how hearing and balance issues are linked to a specific gene mutation in people with DFNA9, including those who may not yet show symptoms, to better understand their experiences and challenges.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 70 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Jessa Hospital (other) |
| Locations | 1 site (Antwerp) |
| Trial ID | NCT03716908 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 18 and older who are family members of probands carrying the P51S COCH mutation.
Not a fit: Patients who may not benefit include those under 18 years old, individuals with other vestibular diseases, or those who have undergone relevant surgeries.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of vestibular dysfunction in DFNA9 patients, enhancing their quality of life.
How similar studies have performed: While previous studies have explored genotype-phenotype correlations in DFNA9, this study's comprehensive approach with modern vestibular testing is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Antwerp
- University of Antwerp — Antwerp, Belgium (RECRUITING)
Study contacts
- Study coordinator: sebastien PF JanssensdeVarebeke, MD
- Email: sebastien.janssensdevarebeke@jessazh.be
- Phone: 011337420
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Vestibular Diseases, DFNA9