Otoferlin Patient Registry and Natural History Study

NCT05946057 — Recruiting, 100 participants, Tobias Moser

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Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

Registry	NCT05946057
Status	Recruiting
Study type	Observational
Enrollment	100 (Estimated)
Sponsor	Tobias Moser (Other)
Conditions	Otoferlin-related Auditory Synaptopathy, Hearing Impairment
Interventions	Molecular genetic testing and audiometry (Diagnostic test)
Dates	start 2023-02-21, primary completion 2048-02-21 (estimated), completion 2048-02-21 (estimated), first posted 2023-07-14, last updated 2025-05-28
Locations	1 site in Germany

-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.

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+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.

+Arms and interventions

Arm	Type	Interventions	Description
Otoferlin participant group		Diagnostic Test: Molecular genetic testing and audiometry	Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin

Molecular genetic testing and audiometry (Diagnostic test): Genetic testing and audiometry are the interventions of interest

+Outcome measures

Primary outcomes

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

Secondary outcomes

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

+Eligibility

Sex: All

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

+Locations (1)

Facility	City	Country	Status
University Medical Center Goettingen	Goettigen, Lower Saxony	Germany	Recruiting

+Publications

Results publication: Vona B, Wollnik B, Strenzke N, Moser T. Catching up but still miles behind-a patient registry for otoferlin. Exp Mol Med. 2024 Jun;56(6):1472-1473. doi: 10.1038/s12276-024-01247-6. Epub 2024 Jun 3. No abstract available. PMID 38825639

+Study documents

Study Protocol: Study Protocol: Study Information English (PDF, 2025-05-17)

+Investigators

Tobias Moser, MD, Study director, University Medical Center Goettingen
Bernd Wollnik, MD, Principal investigator, University Medical Center Goettingen
Nicola Strenzke, MD, Principal investigator, University Medical Center Goettingen
Barbara Vona, PhD, Principal investigator, University Medical Center Goettingen