Otoferlin Patient Registry and Natural History Study

NCT ID: NCT05946057

Last Updated: 2025-05-28

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-02-21

Study Completion Date

2048-02-21

Brief Summary

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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

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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.

Conditions

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Otoferlin-related Auditory Synaptopathy Hearing Impairment

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

OTHER

Study Groups

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Otoferlin participant group

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

Molecular genetic testing and audiometry

Intervention Type DIAGNOSTIC_TEST

Genetic testing and audiometry are the interventions of interest

Interventions

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Molecular genetic testing and audiometry

Genetic testing and audiometry are the interventions of interest

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Tobias Moser

OTHER

Sponsor Role lead

Responsible Party

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Tobias Moser

Prof.

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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Tobias Moser, MD

Role: STUDY_DIRECTOR

University Medical Center Goettingen

Bernd Wollnik, MD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Nicola Strenzke, MD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Barbara Vona, PhD

Role: PRINCIPAL_INVESTIGATOR

University Medical Center Goettingen

Locations

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University Medical Center Goettingen

Goettigen, Lower Saxony, Germany

Site Status RECRUITING

Countries

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Germany

Central Contacts

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Barbara Vona, PhD

Role: CONTACT

+49-551-38-51337

Tobias Moser, MD

Role: CONTACT

+49-551-39-63070

Facility Contacts

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Barbara Vona, PhD

Role: primary

+49-551-38-51337

Tobias Moser, MD

Role: backup

+49-551-39-63070

References

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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.

Reference Type RESULT
PMID: 38825639 (View on PubMed)

Provided Documents

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Document Type: Study Protocol: Study Protocol: Study Information English

View Document

Related Links

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Other Identifiers

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

Identifier Type: -

Identifier Source: org_study_id

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