Overview
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 10 years of age.
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 10 years of age who have a moderate to profound deafness.
- better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.
Eligibility
Main Inclusion Criteria:
Participants meeting all the following main inclusion criteria will be eligible to
participate in the study:
- Aged ≤ 10 years on the date of signed informed consent;
- With a diagnosis of non-syndromic, bilateral, moderate to profound, sensorineural
hearing loss (according to the American Speech Language-Hearing Association);
- With documented genotyping results showing mutation(s) in GJB2 or OTOF genes;
- Written informed consent as required by local regulations.
- Either without Cochlear Implant, or with unilateral or bilateral Cochlear Implant(s)
Exclusion Criteria:
Participants presenting with any of the following main exclusion criteria will not be
included in the study
- Other type of deafness, such as unilateral deafness, persistent conductive deafness,
malformation syndrome, syndromic deafness, known familial deafness linked to mutations
in other genes than OTOF or GJB2;
- Documented genotyping results showing pathogenic mutation(s) in other gene(s) than
GJB2 or OTOF genes in the tested panel;
- Unable and/or unwilling to comply with all the protocol requirements and/or study
procedures.