Actively Recruiting
Longitudinal Study of the Natural History of Two Autosomal Recessive Non Syndromic Deafness (DFNB1A and DFNB9) in Children up to 16 Years of Age
Led by Sensorion · Updated on 2026-06-01
180
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to follow the natural course of non-syndromic hearing loss caused by mutations in the GJB2 or OTOF genes in children up to 16 years old. It focuses on better understanding the prevalence, types of mutations, and clinical progression of DFNB1A and DFNB9 forms of deafness, as well as their audiological and genetic features in children with mild to profound hearing loss. Participants are grouped based on their use of cochlear implants: those without implants, those who receive unilateral or bilateral implants during the study, and those who already have implants at the start. The study collects routine Pure Tone Audiometry data and Quality of Life questionnaire responses throughout the study period. Children enrolled will undergo audiological evaluations including pure tone audiometry, auditory brainstem response (ABR), and otoacoustic emissions (OAE) over up to 4 years. Genetic and phenotypic characteristics will be assessed at enrollment. Hearing-related quality of life will also be monitored. The study continues monitoring participants for up to 4 years to track hearing and electrophysiological characteristics and quality of life.
CONDITIONS
Brief Title
Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants aged 16 years or younger at informed consent for cohort 1 and 10 years or younger for cohort 2
- Diagnosis of non-syndromic, bilateral, mild to profound sensorineural hearing loss
- Documented genetic mutation(s) in GJB2 or OTOF genes
- Written informed consent as required by local regulations
- Participants may have no cochlear implant or have unilateral or bilateral cochlear implants
You will not qualify if you...
- Unilateral deafness, persistent conductive deafness, malformation syndromes, syndromic deafness, or familial deafness linked to genes other than GJB2 or OTOF
- Genetic mutations found in genes other than GJB2 or OTOF
- Unable or unwilling to comply with study procedures and requirements
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 4 years
Participants are observed to describe the clinical course of hearing loss and to understand audiological and genetic characteristics.
Regular audiometry and quality of life questionnaire assessments during study period
Trial Site Locations
Total: 1 location
1
Necker Hospital
Paris, France
Actively Recruiting
Research Team
L
Lionel HOVSEPIAN, MD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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