Cross-sectional and Prospective Study to Characterize Early-onset Presbycusis
Sensorion
Summary
The purpose of this study is to characterize and assess the evolution of hearing impairment of patients with adulthood-onset bilateral sensorineural hearing loss carrying mutations on GJB2 gene.
Description
This study aims to characterize patients with adulthood-onset bilateral sensorineural hearing loss not due to any underlying medical condition (likely due to a genetic cause) and to assess the evolution of hearing impairment of those carrying mutations in GJB2 gene. Patients who present with adulthood-onset bilateral sensorineural hearing loss will be screened for the presence of mutation involved in hearing impairment. Patients with GJB2 mutations will be proposed to continue in a follow-up period.
Eligibility
- Age range
- 30–55 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: 1. Female or Male patients ≥30 and ≤55 years old 2. Bilateral hearing loss first noticed after the age of 16 years old 3. Documented genotyping results showing mutations in GJB2 gene. Exclusion Criteria: 1. Deafness with a known, non-genetic cause 2. To the opinion of the investigator, unable and/or unwilling to comply with all the protocol requirements and/or study procedures
Interventions
- GeneticGenotyping
Genotyping to determine if patients present mutations to the gene GJB2.
- OtherAudiological assessments
Audiological assessments
Locations (2)
- The University of South Florida Board of TrusteesTampa, Florida
- CHU Gui de ChauliacMontpellier