Skip to main content
OpenTrials
Recruiting

NCT Number: NCT05946057

Otoferlin Patient Registry and Natural History Study

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.

Recruiting

Interested in participating?

Request Info

Key information

Conditions

Otoferlin-related Auditory Synaptopathy Ear Diseases Hearing Disorders Hearing Impairment Hearing Loss Nervous System Diseases Neurologic Manifestations Otorhinolaryngologic Diseases Pathological Conditions, Signs and Symptoms Sensation Disorders Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

Primary location

University Medical Center Goettingen

Goettigen, Lower Saxony, 37075, Germany

Location status: Recruiting

About this study

A patient registry, in both German and English languages, has been established for patients with hereditary hearing impairment due to variants in otoferlin (OTOF). The study is conducted in accordance with the current version of the Declaration of Helsinki. The study protocol and database structure have been approved by the Ethics Committee of the University Medical Center Göttingen.

Main objective criterion:

To increase understanding of natural history, types of genetic variants and to facilitate clinical and basic research on otoferlin-associated hearing impairment.

Secondary objective criterion:

To improve knowledge to better characterize individuals with otoferlin-associated hearing impairment in the long term and create prerequisites for improved, patient tailored therapy and care.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Molecular genetic testing and audiometry

Diagnostic Test

Genetic testing and audiometry are the interventions of interest

Primary outcomes

  1. Pure-tone audiometry

    Time frame: 1 year, year 1, according to participant consent

    Audiological characteristics

  2. Speech audiometry

    Time frame: 1 year, year 1, according to participant consent

    Audiological characteristics

Secondary outcomes

  1. Otoacoustic emission thresholds

    Time frame: 1 year, year 1, according to participant consent

    Electrophysiological characteristics

  2. Auditory brainstem response

    Time frame: 1 year, year 1, according to participant consent

    Electrophysiological characteristics

Interested in participating?

Recruiting

Interested in participating?

Request Info

Sponsors and collaborators

Lead sponsor

Tobias Moser

Other

Registry information

Official study title

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

Important dates

Study start
2023
Primary completion
2048
Study completion
2048
First posted
Jul 14, 2023
Registry last updated
May 28, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.