Evaluation of a Cohort of Congenital Deep Deafness Patients And/or with Auditory Neuropathy, Looking for DFNB9 (AUDIOFERLINE)

Assistance Publique - Hôpitaux de Paris

Status

Completed

Conditions

Congenital Profound Hearing Loss

Treatments

Genetic: Genetic analysis

Other: Data collection

Study type

Observational

Funder types

Other

Identifiers

NCT04202185

APHP190940

2019-A02968-49 (Registry Identifier)

Details and patient eligibility

About

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.

Full description

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

Enrollment

150 patients

Sex

All

Ages

Under 25 years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

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)