Tracking hearing loss in children with specific genetic mutations
Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
This study is tracking children with hearing loss caused by specific genetic mutations to see how their condition changes over time and how it affects their quality of life.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 180 (estimated) |
| Ages | N/A to 16 Years |
| Sex | All |
| Sponsor | Sensorion Industry-sponsored |
| Locations | 1 site (Paris) |
| Trial ID | NCT05402813 on ClinicalTrials.gov |
What this trial studies
This observational study follows children up to 16 years old who have mild to profound hearing loss due to mutations in the GJB2 or OTOF genes. It aims to describe the prevalence and types of mutations associated with DFNB1A and DFNB9, and to assess the clinical course of the disease. Participants will undergo pure tone audiometry assessments and complete quality of life questionnaires to gather comprehensive data on their audiological and genetic characteristics. The study will help differentiate between congenital and evolutive forms of hearing loss in these children.
Who should consider this trial
Good fit: Ideal candidates are children aged 16 years or younger with documented mutations in the GJB2 or OTOF genes and bilateral sensorineural hearing loss.
Not a fit: Patients with other types of deafness, such as unilateral deafness or syndromic deafness linked to different genetic mutations, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of genetic hearing loss, leading to improved management and treatment strategies for affected children.
How similar studies have performed: Other studies have shown success in understanding genetic causes of hearing loss, making this approach promising but still requiring further exploration.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Paris
- Necker Hospital — Paris, France (Recruiting)
Study contacts
- Principal investigator: Natalie LOUNDON, MD — Necker Hospital
- Study coordinator: Lionel HOVSEPIAN, MD
- Email: lionel.hovsepian@sensorion-pharma.com
- Phone: +33 (0)7 86 31 13 76
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.