Otoferlin Patient Registry and Natural History Study

Recruiting

• Conditions: Otoferlin-related Auditory Synaptopathy; Hearing Impairment
• Interventions: Diagnostic Test: Molecular genetic testing and audiometry

• Registration Number: NCT05946057
• Lead Sponsor: Tobias Moser

Brief 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.

Detailed 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.

Study Timeline

• Study Start: 2023-02-21
• Study First Submitted: 2023-06-05
• Study First Submitted QC: 2023-07-06
• Study First Posted: 2023-07-14
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-21
• Last Update Posted: 2024-06-25
• Primary Completion: 2048-02-21
• Study Completion: 2048-02-21

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Otoferlin participant group	Molecular genetic testing and audiometry	Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin

Primary Outcome Measures

Name	Time	Method
Speech audiometry	1 year, year 1, according to participant consent	Audiological characteristics
Pure-tone audiometry	1 year, year 1, according to participant consent	Audiological characteristics

Secondary Outcome Measures

Name	Time	Method
Otoacoustic emission thresholds	1 year, year 1, according to participant consent	Electrophysiological characteristics
Auditory brainstem response	1 year, year 1, according to participant consent	Electrophysiological characteristics

Trial Locations

Locations (1)

University Medical Center Goettingen; 🇩🇪 Goettigen, Lower Saxony, Germany