Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations in GJB2/OTOF Genes

Brief Title

Natural History in Children up to 10 Years With Moderate to Profound Hearing Loss Due to Mutations in GJB2/OTOF Genes

Official Title

Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 10 Years of Age

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 10 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 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.
    

Study Type

Observational

Primary Outcome

Audiological characteristics

Secondary Outcome

 Genotypic and phenotypic characterisation

Condition

Sensorineural Hearing Loss, Bilateral

Intervention

Pure Tone Audiometry Assessment

Study Arms / Comparison Groups

 Cohort 1a

Description:  Patients without Cochlear Implant, with or without Hearing Aid(s) at study entry

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Status

Other

Estimated Enrollment

180

Start Date

May 31, 2022

Completion Date

May 31, 2026

Primary Completion Date

May 31, 2026

Eligibility Criteria

        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.
      

Gender

All

Ages

N/A - 10 Years

Accepts Healthy Volunteers

No

Contacts

Natalie LOUNDON, MD, +33(0)663737108, [email protected]

NCT ID

NCT05402813

Organization ID

SENS-NH01

Responsible Party

Sponsor

Study Sponsor

Sensorion

Study Sponsor

Natalie LOUNDON, MD, Principal Investigator, Necker Hospital

Verification Date

May 2022