Natural History in Children Up to 16 Years with Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

180 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-11-18

Study Completion Date

2028-11-18

Brief Summary

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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.

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Detailed Description

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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 who have a mild to profound deafness.
* better understand the audiological and genetic characteristics of the participants with congenital versus evolutive DFNB1A and DFNB9 deafness.

Conditions

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Cohort 1a

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

Pure Tone Audiometry Assessment

Intervention Type OTHER

Collection of Pure Tone Audiometry data performed in routine practice during study period

Quality of Life Questionnaires

Intervention Type OTHER

Collection of Quality of Life questionnaire's answers during study period

Cohort 1b

Patients receiving unilateral or bilateral Cochlear Implant(s) during the study period, after study entry

Pure Tone Audiometry Assessment

Intervention Type OTHER

Collection of Pure Tone Audiometry data performed in routine practice during study period

Quality of Life Questionnaires

Intervention Type OTHER

Collection of Quality of Life questionnaire's answers during study period

Cohort 2

Patients with Cochlear Implant(s) (unilateral or bilateral) at study entry

Pure Tone Audiometry Assessment

Intervention Type OTHER

Collection of Pure Tone Audiometry data performed in routine practice during study period

Quality of Life Questionnaires

Intervention Type OTHER

Collection of Quality of Life questionnaire's answers during study period

Interventions

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Pure Tone Audiometry Assessment

Collection of Pure Tone Audiometry data performed in routine practice during study period

Intervention Type OTHER

Quality of Life Questionnaires

Collection of Quality of Life questionnaire's answers during study period

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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

* 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.

Maximum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No