An observational study in Congenital Profound Hearing Loss, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged Up to 25 Years. Per ClinicalTrials.gov, last updated 2026-02-13.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
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
1,092 studies on the registry are indexed under Hearing Loss; 235 are open to participants now.
This study's enrollment of 150 is above the median of 87 across 270 observational studies indexed under Hearing Loss.
Browse Hearing Loss studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patient coming to the Necker Hospital for a deafness visit or for a check-up prior to a cochlear implantation
G1a / Inclusion Criteria:
G1b / Inclusion Criteria:
G2 / Inclusion Criteria:
Exclusion Criteria:
infants under 3 years deaf severe to deep
Other: Data collection · Genetic: Genetic analysis
children under 16 years of age with audiologically proven auditory neuropathy
Other: Data collection · Genetic: Genetic analysis
patients \<25 years old with one or two Otoferlin mutations
Other: Data collection
Retrospective collection data from diagnostic Data collected following to medical exam as part of care
Research of mutation and identification of genetic panel as part of care
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
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
ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz
Time frame: 1 day
Electrophysiological characteristics : auditory Steady State Response (ASSR) at 12 months or last record
ASSR thresholds per ear at 500, 1000, 2000, 4000 Hz
Time frame: 12 months
Electrophysiological characteristics : otoacoustic emissions (OEAs) at diagnosis
OEAs status
Time frame: 1 day
Electrophysiological characteristics : otoacoustic emissions (OEAs) at 12 months or last record
OEAs status
Time frame: 12 months
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at diagnosis
PEOM
Time frame: 1 day
Vestibular characteristics : per-oral endoscopic myotomy (PEOM) at 12 months or last record
PEOM
Time frame: 12 months
Vestibular characteristics : video Head Impulse Test (VHIT) at diagnosis
VHIT
Time frame: 1 day
Vestibular characteristics : video Head Impulse Test (VHIT) at 12 months or last record
VHIT
Time frame: 12 months
Caloric Tests at diagnosis
Caloric Tests
Time frame: 1 day
Caloric Tests at 12 months or last record
Caloric Tests
Time frame: 12 months
Clinical development scale at diagnosis
For child under 3 years with : walk age, sitting age and head held age
Time frame: 1 day
Clinical development scale at 12 months or last record
For child under 3 years with : walk age, sitting age and head held age
Time frame: 12 months
This study is completed, as verified in Feb 2026. You cannot join it, but the record below documents what was studied.
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Auditory neuropathy
Assistance Publique - Hôpitaux de Paris