Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07778641

Enrollment

Registered

2026-08-21

Start date

2026-08-01

Completion date

2027-02-01

Last updated

2026-08-21

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Auditory Neuropathy Spectrum Disorder, Auditory Neuropathy

Keywords

Otoferlin, Auditory neuropathy spectrum disorder, ANSD, Auditory synaptopathy, Genetic Testing, Whole Exome Sequencing, OTOF mutation, Hereditary hearing loss, Molecular testing, OTOF, OTOF Variants

Brief summary

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.

Interventions

DIAGNOSTIC_TESTWhole exome sequencing.

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.

Study design

Observational model

CASE_ONLY

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

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.

Design outcomes

Primary

Measure	Time frame
Study OTOF gene variants among patients with non-syndromic auditory neuropathy spectrum disorder	At baseline, following enrollment and confirmation of eligibility.

Countries

Egypt

Contacts

CONTACTMira Ayman Ramzy

mira_ayman99@yahoo.com+201273979650

CONTACTMostafa Ahmed Aly Youssif, Professor

+201001313395

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Aug 22, 2026