Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

Sohag University

Status: Not yet enrolling

Conditions: Auditory Neuropathy Spectrum Disorder; Auditory Neuropathy

Treatments: Diagnostic Test: Whole exome sequencing.

Study type: Observational

Funder types: Other

Identifiers

NCT07778641

Soh-Med-26-8-18MS

Details and patient eligibility

About

The aim of this observational study is to determine the prevalence of OTOF gene variants among patients with auditory neuropathy spectrum disorder (ANSD). The primary research question is whether patients with ANSD carry a pathogenic or likely pathogenic OTOF gene variant. Participants will undergo genetic analysis of the OTOF gene.

Enrollment: 30 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

1. The study will be including 30 subjects of 30 patients of both sexes of any age with congenital hearing loss and confirmed diagnosis of non-syndromic ANSD:

   A) Disproportionate speech discrimination score (SDS) with the hearing threshold level.

   B)The auditory brainstem response (ABR) test with no waveform, disturbed waves, nor detectable wave V at high intense stimulus.

   C) The otoacoustic emission (OAE) and/or cochlear microphonic (CM) potential may be present.

2. Informed consent.

Exclusion criteria

• 1) Known acquired risk factors of ANSD as preterm, hypoxia, hyperbilirubinemia. 2) Conductive hearing loss. 3) Syndromic ANSD hearing loss. 3) Binaural cochlear implants. 4) Inner ear malformation, cochlear nerve aplasia or hypoplasia.

Trial design

30 participants in 1 patient group

Patients with auditory neuropathy spectrum disorder

Treatment:

Diagnostic Test: Whole exome sequencing.