RecruitingNCT05946057

Otoferlin Patient Registry and Natural History Study

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss


Sponsor

Tobias Moser

Enrollment

100 participants

Start Date

Feb 21, 2023

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Inclusion Criteria1

  • A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry

Exclusion Criteria1

  • Patients with evidence of non-OTOF molecular genetic diagnoses

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Interventions

DIAGNOSTIC_TESTMolecular genetic testing and audiometry

Genetic testing and audiometry are the interventions of interest


Locations(1)

University Medical Center Goettingen

Goettigen, Lower Saxony, Germany

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NCT05946057


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