Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9

N/ACompletedNCT04202185

Assistance Publique - Hôpitaux de Paris150 enrolled

Overview

Evaluation of a cohort of deaf children looking for autosomal recessive deafness-9 (DFNB9). Clinical and audiologic evaluation of patients with known auditive neuropathy / auditory dys-synchrony (ANAD) or recently diagnosed congenital severe to profound hearing loss (HL), and assessing genetic analysis looking for DFNB9. The investigators expect to compile genotypic and phenotypic characterization of 25 children with DFNB9 within 4 years.

ANAD is not a rare type of hearing loss. Nevertheless, its profile is heterogeneous and the pathology remain underdiagnosed. The investigators will screen all new patients with bilateral severe to profound HL, looking for DFNB9. They will analyse their electrophysiology (auditory potential, and otoacoustic emission), and their audio-vestibular profile, at an early stage and one year after inclusion. All patients will be seen in the genetic clinic. Also, the investigators will analyse all patients with ANAD profile and patients known with ANAD. All informations will provide precise data base to allow a better understanding of the pathology. It might also lead to select the best candidates for future gene therapy

Study Type

OBSERVATIONAL

Enrollment

150

Conditions

Congenital Profound Hearing Loss

Interventions

Data collectionOTHER

Retrospective collection data from diagnostic Data collected following to medical exam as part of care

Genetic analysisGENETIC

Research of mutation and identification of genetic panel as part of care

Eligibility

Sex: ALLMax age: 25 Years

Medical Language ↔ Plain English

G1a / Inclusion Criteria: * Child from 0 to 3 years old * Child with severe to profound bilateral deafness newly diagnosed with: * Average hearing threshold\> 70 decibel on each ear * and / or no response to 70 decibel PEA on each ear * and / or no response to ASSR G1b / Inclusion Criteria: * Child under 16 * Child with newly diagnosed hearing neuropathy : tonal/vocal dissociation (when this is possible), and/or modified PEA, and/or discordant ASSR, and/or OEA present. G2 / Inclusion Criteria: * Adult patient under 25 or child * Patient with deafness with auditory neuropathy * Patient known to have 1 or 2 mutations of the otoferlin protein Exclusion Criteria: * Other type of deafness such as : unilateral deafness, deafness of transmission, malformation syndrome, known genetic familial deafness not DFNB9 * Patient without medical insurance * Lack of consent to DNA sampling, of one or both biological parents (consent of the care)

Locations (1)

Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital

Paris, France

Outcomes

Primary Outcomes

Prevalence of deafness caused by DFNB9

Prevalence and type of bi-allelic pathogenic changes Otoferlin Molecular analysis will be done by Next Generation Sequencing Capture method

Time frame: 3 months

Secondary Outcomes

Audiological characteristics in free fields at diagnosis

audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields

Time frame: 1 day

Audiological characteristics in separate ears at diagnosis

audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears

Time frame: 1 day

Audiological characteristics in free fields at 12 months or last record

audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields

Time frame: 12 months

Audiological characteristics in separate ears at 12 months or last record

audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears

Time frame: 12 months

Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis

PEA thresholds per ear

Time frame: 1 day

Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record

PEA thresholds per ear

Time frame: 12 months

Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis

Data from ClinicalTrials.gov

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