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

Sensorion180 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

180

Conditions

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

Eligibility

Sex: ALLMax age: 16 Years

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Audiological characteristics

Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry

Time frame: Up to 4 years

Electrophysiological characteristics: ABR

Auditory Brainstem Response, thresholds

Time frame: Up to 4 years

Electrophysiological characteristics: OAE

Otoacoustic Emissions thresholds

Time frame: Up to 4 years

Secondary Outcomes

Genotypic and phenotypic characterisation

Genotypic and phenotypic characterisation of the population will be assessed in Cohort 1a. Frequency of autosomal recessive 1 and 9 deafness (GJB2 and OTOF genes) and type of mutations will be evaluated among the screened population of male and female children aged ≤ 10 years, with a diagnosis of bilateral moderate to profound, sensorineural, non-syndromic hearing loss.

Time frame: 1 Day

Hearing-related Quality of Life questionnaire

The Hearing Environments And Reflection on Quality of Life (HEAR-QL) measurement questionnaires will be used to assess the quality of life of children. Depending on child's age, the HEAR-QL questionnaires will be completed either by parents/caregivers (child aged 2 to 6 years) either by the child (child aged 7 to 12 years). The items of the questionnaires are focused on situations affecting interactions with family and friends, participation in social and school activities, and impact of Hearing Loss on the child's emotional well being. Children/parents will be asked to rate how frequently each item was a problem for them/child in the past month using the following response choices: "never" (1), "almost never" (2), "sometimes" (3), "often" (4), or "Almost always" (5). Scores are transformed with 1=100, 2=75, 3=50, 4=25, and 5=0 points. Higher scores indicate higher perceived Quality Of Life.

Time frame: Up to 4 years

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

Overview

Conditions

Interventions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts