Congenital Profound Hearing Loss Clinical Trial
— AUDIOFERLINEOfficial title:
Evaluation of a Cohort of Congenital Deep Deafness Patients and/or With Auditory Neuropathy, Looking for DFNB9
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.
| Status | Recruiting |
| Enrollment | 150 |
| Est. completion date | September 2025 |
| Est. primary completion date | April 2024 |
| Accepts healthy volunteers | No |
| Gender | All |
| Age group | N/A to 25 Years |
| Eligibility | 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) |
| Country | Name | City | State |
|---|---|---|---|
| France | Unité d'Audiophonologie et d'Implantation cochléaire - Necker hospital | Paris |
| Lead Sponsor | Collaborator |
|---|---|
| Assistance Publique - Hôpitaux de Paris |
France,
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Marlin S, Feldmann D, Nguyen Y, Rouillon I, Loundon N, Jonard L, Bonnet C, Couderc R, Garabedian EN, Petit C, Denoyelle F. Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever! Biochem Biophys Res Commun. 2010 Apr 9;394(3):737-42. doi: 10.1016/j.bbrc.2010.03.062. Epub 2010 Mar 16. — View Citation
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Rouillon I, Marcolla A, Roux I, Marlin S, Feldmann D, Couderc R, Jonard L, Petit C, Denoyelle F, Garabédian EN, Loundon N. Results of cochlear implantation in two children with mutations in the OTOF gene. Int J Pediatr Otorhinolaryngol. 2006 Apr;70(4):689-96. Epub 2005 Oct 13. — View Citation
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| Type | Measure | Description | Time frame | Safety issue |
|---|---|---|---|---|
| Primary | 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 | 3 months | |
| Secondary | Audiological characteristics in free fields at diagnosis | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields | 1 day | |
| Secondary | Audiological characteristics in separate ears at diagnosis | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears | 1 day | |
| Secondary | Audiological characteristics in free fields at 12 months or last record | audiometric thresholds on 500, 1000, 2000, 4000 Hz in free fields | 12 months | |
| Secondary | Audiological characteristics in separate ears at 12 months or last record | audiometric thresholds on 500, 1000, 2000, 4000 Hz in separate ears | 12 months | |
| Secondary | Electrophysiological characteristics : auditory evoked potentials (PEA) at diagnosis | PEA thresholds per ear | 1 day | |
| Secondary | Electrophysiological characteristics : auditory evoked potentials (PEA) at 12 months or last record | PEA thresholds per ear | 12 months | |
| Secondary | Electrophysiological characteristics : auditory Steady State Response (ASSR) at diagnosis | ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz | 1 day | |
| Secondary | Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record | ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz | 12 months | |
| Secondary | Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis | OEAs status | 1 day | |
| Secondary | Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record | OEAs status | 12 months | |
| Secondary | Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis | PEOM | 1 day | |
| Secondary | Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record | PEOM | 12 months | |
| Secondary | Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis | VHIT | 1 day | |
| Secondary | Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record | VHIT | 12 months | |
| Secondary | Caloric Tests at diagnosis | Caloric Tests | 1 day | |
| Secondary | Caloric Tests at 12 months or last record | Caloric Tests | 12 months | |
| Secondary | Clinical development scale at diagnosis | For child under 3 years with : walk age, sitting age and head held age | 1 day | |
| Secondary | Clinical development scale at 12 months or last record | For child under 3 years with : walk age, sitting age and head held age | 12 months |