Ireland
--:--IST
Recruiting Observational

Otoferlin Patient Registry and Natural History Study

NCT05946057 · tracked via the Priya Life Science Germany tracker
Sponsor
Tobias Moser
Phase
Observational
Started
2023-02-21
Last updated
2025-05-28

Condition(s) studied

Otoferlin-related Auditory SynaptopathyHearing Impairment

Investigational drug(s) / intervention(s)

Molecular genetic testing and audiometry

Molecular genetic testing and audiometry: Genetic testing and audiometry are the interventions of interest

Study summary

This registry is designed to collect comprehensive information about the molecular genetic diagnoses of individuals with otoferlin-associated hearing impairment and clinical information to support a natural history study.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria: * A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry Exclusion Criteria: * Patients with evidence of non-OTOF molecular genetic diagnoses

Primary outcome measure(s)

  • Pure-tone audiometry — 1 year, year 1, according to participant consent
    Audiological characteristics
  • Speech audiometry — 1 year, year 1, according to participant consent
    Audiological characteristics

Trial sites (1)

FacilityCityRegionStatus
University Medical Center Goettingen Goettigen Lower Saxony Recruiting

Other trials for the same condition

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05946057 on ClinicalTrials.gov ↗ ← All trials in Germany