AUNB1, Congenital Deafness, DFNB1A, DFNB9, GJB2 Gene Mutation, OTOF Gene Mutation, Sensorineural Hearing Loss, Bilateral
Conditions
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 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.
Interventions
OTHERPure Tone Audiometry Assessment
Collection of Pure Tone Audiometry data performed in routine practice during study period
OTHERQuality of Life Questionnaires
Collection of Quality of Life questionnaire's answers during study period
Sponsors
Sensorion
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 16 Years
Healthy volunteers
No
Inclusion criteria
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Audiological characteristics | Up to 4 years | Pure Tone Audiometry, thresholds on 500, 1000, 2000, 4000 Hz Speech audiometry |
| Electrophysiological characteristics: ABR | Up to 4 years | Auditory Brainstem Response, thresholds |
| Electrophysiological characteristics: OAE | Up to 4 years | Otoacoustic Emissions thresholds |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genotypic and phenotypic characterisation | 1 Day | 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 \< 16 years, with a diagnosis of bilateral mild to profound, sensorineural, non-syndromic hearing loss. |
| Hearing-related Quality of Life questionnaire | Up to 4 years | 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. |
Countries
France
Contacts
CONTACTLionel HOVSEPIAN, MD
PRINCIPAL_INVESTIGATORNatalie LOUNDON, MD
Necker Hospital
Outcome results
None listed