Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Pure Tone Audiometry Assessment, Quality of Life Questionnaires.
- Who it may be relevant to
- Registry conditions: Sensorineural Hearing Loss, Bilateral, AUNB1, DFNB1A, Congenital Deafness. Basic parameters: up to 16 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
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.
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
- Other Pure Tone Audiometry Assessment
Collection of Pure Tone Audiometry data performed in routine practice during study period - Other Quality of Life Questionnaires
Collection of Quality of Life questionnaire's answers during study period
Primary outcome measures
- Audiological characteristics [Time frame: Up to 4 years]
- Electrophysiological characteristics: ABR [Time frame: Up to 4 years]
- Electrophysiological characteristics: OAE [Time frame: Up to 4 years]
Secondary outcome measures (2)
- Genotypic and phenotypic characterisation [Time frame: 1 Day]
- Hearing-related Quality of Life questionnaire [Time frame: Up to 4 years]
Eligibility 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 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Necker Hospital — Paris
Identifiers
NCT: NCT05402813 · SENS-NH01