Cross-sectional and Prospective Study to Characterize Early-onset Presbycusis

Recruiting

• Conditions: Sensorineural Hearing Loss, Bilateral

• Registration Number: NCT06354010
• Lead Sponsor: Sensorion

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.

Study Timeline

• Study First Submitted: 2024-02-20
• Study First Submitted QC: 2024-04-02
• Study First Posted: 2024-04-09
• Study Start: 2024-06-14
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-21
• Last Update Posted: 2025-03-25
• Primary Completion: 2027-07
• Study Completion: 2027-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Evolution of hearing impairment of adult patients with early-onset presbycusis carrying mutations in GJB2 gene.	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	2 years	Evolution of hearing impairment assessed by Speech in noise

Secondary Outcome Measures

Name	Time	Method
Genetic characteristics of adult patients with early-onset presbycusis	Unique visit	Genotyping
Audiological characteristics of adult patients with early-onset presbycusis	Unique visit	Pure Tone Audiometry
Mood evaluation in adult patients with early-onset presbycusis carrying mutations in GJB2 gene	2 years	Mood evaluation assessed with Patient Health Questionnaire for depression (PHQ-9)

Trial Locations

Locations (2)

The University of South Florida Board of Trustees; 🇺🇸 Tampa, Florida, United States

CHU Gui de Chauliac; 🇫🇷 Montpellier, France