Tracking hearing loss in children with specific genetic mutations

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Sky-GJB2 gene therapy for GJB2-related hearing loss in young children

  This trial tests SKY-GJB2 gene therapy delivered by SKY-CAT in children aged 9 months to 7 years with GJB2-related bilateral sensorineural hearing loss.

  Recruiting at 4 sites Phase 1/2 Skylark Bio Inc. · Bethesda, Maryland and 3 other locations · NCT07627971

• Comparing speech understanding methods for cochlear implant users

  This study tests whether a new way of setting up cochlear implants helps adults understand speech better in noisy places compared to the traditional method.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Dijon · NCT06737185

• Comparing speech perception with different cochlear implant settings

  This study tests whether different settings on cochlear implants can help adults hear and understand speech better in noisy situations.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Limoges · NCT06723262

• Gene therapy for hearing loss caused by OTOF gene mutations

  This study is testing a new gene therapy to see if it can help children with hearing loss caused by OTOF gene mutations hear better.

  Recruiting at 2 sites Eye & ENT Hospital of Fudan University · Zhengzhou, Henan and 1 other locations · NCT06722170

• Comparing two fitting strategies for cochlear implants in patients with hearing loss

  This study is testing two different ways to set up cochlear implants for people with hearing loss to see which one helps them understand speech better in noisy places.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Saint-Etienne · NCT05955469

• Comparing two fitting strategies for cochlear implants in patients with hearing loss

  This study is testing two different ways to set up cochlear implants and hearing aids together to see which helps adults with hearing loss hear better in noisy situations.

  Recruiting MED-EL Elektromedizinische Geräte GmbH · Nice · NCT05898659

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.