Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

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.

Not yet recruiting

Trial opening soon.

Get Notified

Key information

Conditions

Auditory Neuropathy Spectrum Disorder Auditory Neuropathy Deafness, Autosomal Recessive 9 Ear Diseases Hearing Disorders Hearing Loss Hearing Loss, Hidden Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Sensation Disorders Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

Faculty of medicine, Sohag University

Sohag, Sohag Governorate, 82511, Egypt

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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.

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.

Treatment and study plan

Whole exome sequencing.

Diagnostic Test

Whole exome sequencing (WES) will be performed on a biological sample obtained from each eligible participant to analyze the protein-coding regions of the genome. The analysis will specifically assess the OTOF gene for genetic variants associated with auditory neuropathy spectrum disorder (ANSD), while other clinically relevant variants identified through the sequencing may also be documented according to the study protocol. Identified OTOF variants will be classified according to established variant-interpretation criteria.

Primary outcomes

Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder

Time frame: At baseline, following enrollment and confirmation of eligibility.

Study contacts

Contact information is provided by the study sponsor or research team.

Mira Ayman Ramzy

CONTACT

[email protected]

+201273979650

Mostafa Ahmed Aly Youssif, Professor

CONTACT

+201001313395

Sponsors and collaborators

Lead sponsor

Sohag University

Other

Registry information

Important dates

Study start: 2026
Primary completion: 2027
Study completion: 2027
First posted: Aug 21, 2026
Registry last updated: Aug 21, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Not yet recruiting