Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in… (NCT05402813) | Clinical Trial Compass
RecruitingNot Applicable
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
France180 participantsStarted 2022-11-18
Plain-language 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.
Who can participate
Age range16 Years
SexALL
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Main Inclusion Criteria:
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 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.