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Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

NCT07778641 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 30

Last updated 2026-08-21

No results posted yet for this study

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.

Conditions

  • Auditory Neuropathy Spectrum Disorder
  • Auditory Neuropathy

Interventions

DIAGNOSTIC_TEST

Whole 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.

Sponsors & Collaborators

  • Sohag University

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-08-31
Primary Completion
2027-01-31
Completion
2027-02-28

Countries

  • Egypt

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07778641 on ClinicalTrials.gov