Otoferlin Patient Registry and Natural History Study

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05946057

Enrollment

100

Registered

2023-07-14

Start date

2023-02-21

Completion date

2048-02-21

Last updated

2025-05-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hearing Impairment, Otoferlin-related Auditory Synaptopathy

Keywords

Otoferlin patient registry, Natural history study

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.

Interventions

DIAGNOSTIC_TESTMolecular genetic testing and audiometry

Genetic testing and audiometry are the interventions of interest

Study design

Observational model

CASE_ONLY

Time perspective

OTHER

Eligibility

Sex/Gender

ALL

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

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

Germany

Contacts

Primary ContactBarbara Vona, PhD

barbara.vona@med.uni-goettingen.de+49-551-38-51337

Backup ContactTobias Moser, MD

tmoser@gwdg.de+49-551-39-63070

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026