Status:
RECRUITING
Natural History in Children Up to 16 Years with Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
Lead Sponsor:
Sensorion
Conditions:
Sensorineural Hearing Loss, Bilateral
AUNB1
Eligibility:
All Genders
Up to 16 years
Brief 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 w...
Eligibility Criteria
Inclusion
- Main
- Participants meeting all the following main inclusion criteria will be eligible to participate in the study:
- 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
- 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.
Key Trial Info
Start Date :
November 18 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
November 18 2028
Estimated Enrollment :
180 Patients enrolled
Trial Details
Trial ID
NCT05402813
Start Date
November 18 2022
End Date
November 18 2028
Last Update
February 14 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
Necker Hospital
Paris, France