Cross-sectional and Prospective Study to Characterize Early-onset Presbycusis
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- Sensorineural Hearing Loss, Bilateral
- Sponsor
- Sensorion
- Enrollment
- 100
- Locations
- 2
- Primary Endpoint
- Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.
- Status
- Recruiting
- Last Updated
- last year
Overview
Brief 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.
Detailed 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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Female or Male patients ≥30 and ≤55 years old
- •Bilateral hearing loss first noticed after the age of 16 years old
- •Documented genotyping results showing mutations in GJB2 gene.
Exclusion Criteria
- •Deafness with a known, non-genetic cause
- •To the opinion of the investigator, unable and/or unwilling to comply with all the protocol requirements and/or study procedures
Outcomes
Primary Outcomes
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.
Time Frame: 2 years
Evolution of hearing impairment assessed by Pure Tone Audiometry
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene
Time Frame: 2 years
Evolution of hearing impairment assessed by Speech in noise
Secondary Outcomes
- Genetic characteristics of adult patients with early-onset presbycusis(Unique visit)
- Audiological characteristics of adult patients with early-onset presbycusis(Unique visit)
- Mood evaluation in adult patients with early-onset presbycusis carrying mutations in GJB2 gene(2 years)