Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

ConditionsAuditory Neuropathy Spectrum Disorder Auditory Neuropathy

Trial statusNot yet recruiting

Trial phaseNot listed

Trial typeObservational

Biological sexAll

AgeNot listed

SponsorSohag University

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Informed consent.

Disqualifiers

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 population

The study population will consist of patients diagnosed with auditory neuropathy spectrum disorder (ANSD) who meet the predefined eligibility criteria and attend the participating audiology/otolaryngology clinic during the study recruitment period. Eligible participants will undergo genetic analysis to assess for pathogenic or potentially pathogenic variants in the OTOF gene. Participants may include children and adults with ANSD, regardless of sex.

Trial design

Design model

Case-only

Time perspective

Cross-sectional

Treatments tested in this trial

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.

Treatment groups

30 Participants

are divided into 1 treatment group

Group A: Patients with auditory neuropathy spectrum disorder1 intervention

Trial outcomes

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.

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Sohag University

Lead sponsor

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: