RecruitingNCT05402813

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

Sponsor

Sensorion

Enrollment

180 participants

Start Date

Nov 18, 2022

Study Type

OBSERVATIONAL

Conditions

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

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.

Eligibility

Max Age: 16 Years

Inclusion Criteria5

Aged ≤ 16 years on the date of signed informed consent for cohort 1 and ≤ 10 years for cohort 2;
With a diagnosis of non-syndromic, bilateral, mild 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 Criteria3

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.

Print for Your Doctor

Interested in this trial?

Get notified about updates and connect with the research team.