NCT05402813

Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 180 (estimated)
• Sponsor: Sensorion · Industry
• Sex: All
• Age: 16 Years
• Healthy volunteers: Not accepted

Summary

The purpose of this study is to follow the natural history of non-syndromic hearing loss caused by mutations in two genes (GJB2 or OTOF) in children up to 16 years of age.

Detailed description

The study aims to: * better describe the prevalence of cases of DFNB1A and DFNB9, including the type of mutations, and to assess the clinical course of the disease in children up to 16 years of age who have a mild to profound deafness. * better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.

Conditions

• Sensorineural Hearing Loss, Bilateral
• AUNB1
• DFNB1A
• Congenital Deafness
• DFNB9
• OTOF Gene Mutation
• GJB2 Gene Mutation

Interventions

Type	Name	Description
OTHER	Pure Tone Audiometry Assessment	Collection of Pure Tone Audiometry data performed in routine practice during study period
OTHER	Quality of Life Questionnaires	Collection of Quality of Life questionnaire's answers during study period

Timeline

• Start date: 2022-11-18
• Primary completion: 2028-11-18
• Completion: 2028-11-18
• First posted: 2022-06-02
• Last updated: 2026-04-06

Locations

1 site across 1 country: France