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Genetic Study of OTOF- Related Auditory Neuropathy Spectrum Disorder

Key facts

Who runs it
Sohag University
Where
Egypt1 site in 1 countryChoose a country to see its sites
Trial code
Status
Not yet recruiting
People taking part
30 people, planned
Started
Aug 2026
Expected to end
Feb 2027
Type of study
Observational
Treatments tested
  • Whole exome sequencing.
Record updated
21 August 2026

Who can take part

Sex
Women and men
Healthy volunteers
Cannot take part

The registry criteria, word for word

Show all 3 criteriaShow less

Who can take part

  • 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:; 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; The otoacoustic emission (OAE) and/or cochlear microphonic (CM) potential may be present
  • Informed consent

Who cannot take part

  • 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

This trial has no sites in United States.

It has sites in one country. Choose a country to see its sites.

About the trial

What the trial wants to find out

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.

The group in the trial

  • Patients with auditory neuropathy spectrum disorder

    Treatment: Whole exome sequencing.

Questions to ask the study team

  1. How often do I need to come in, and for how long each time?
  2. Are travel costs paid?
  3. Can I keep my own doctor?
  4. What happens if I want to stop?

Contact the study team: see the registry record → Contacts and Locations

Print a page for my doctor

Data and sources

Registry record
Listed on ClinicalTrials.gov.
Record updated
21 August 2026