Otoferlin Patient Registry and Natural History Study

Tobias Moser

Status: Enrolling

Conditions: Otoferlin-related Auditory Synaptopathy; Hearing Impairment

Treatments: Diagnostic Test: Molecular genetic testing and audiometry

Study type: Observational

Funder types: Other

Identifiers

NCT05946057

17/8/22 v1.1 - 2023-02528

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

100 participants in 1 patient group

Otoferlin participant group

Description:

Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin

Treatment:

Diagnostic Test: Molecular genetic testing and audiometry