Sensorineural Hearing Loss, Bilateral
Conditions
Keywords
Adulthood-onset bilateral sensorineural hearing loss, GJB2, Presbycusis, hearing impairement, Deafness, Connexin 26, SONG, Genetic deafness, Adult deafness
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.
Interventions
GENETICGenotyping
Genotyping to determine if patients present mutations to the gene GJB2.
Audiological assessments
Sponsors
Sensorion
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
30 Years to 55 Years
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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) |
Countries
France, United States
Contacts
CONTACTLionel HOVSEPIAN, MD
PRINCIPAL_INVESTIGATORMaya ELZIERE, MD
Hôpital Eureopéen Marseille
Outcome results
None listed