Otoferlin Patient Registry and Natural History Study

Patient Registry for Individuals With Otoferlin-Associated Hearing Loss

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.

Study Overview

• Status: Recruiting
• Conditions: Hearing Impairment; Otoferlin-related Auditory Synaptopathy
• Intervention / Treatment: Diagnostic test: Molecular genetic testing and audiometry

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 Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Barbara Vona, PhD; Phone Number: +49-551-39-65128; Email: barbara.vona@med.uni-goettingen.de
• Study Contact Backup: Name: Tobias Moser, MD; Phone Number: +49-551-39-63070; Email: tmoser@gwdg.de

Study Locations

• Germany
  • Lower Saxony
    • Goettigen, Lower Saxony, Germany, 37075
      • Recruiting
      • University Medical Center Goettingen
      • Contact: Barbara Vona, PhD; Phone Number: +49-551-39-65128; Email: barbara.vona@med.uni-goettingen.de
      • Contact: Tobias Moser, MD; Phone Number: +49-551-39-63070; Email: tmoser@gwdg.de
      • Principal Investigator: Tobias Moser, MD
      • Sub-Investigator: Bernd Wollnik, MD
      • Sub-Investigator: Nicola Strenzke, MD
      • Sub-Investigator: Barbara Vona, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Otoferlin participant group; Individuals with hearing impairment who have a molecular genetic diagnosis involving otoferlin	Diagnostic test: Molecular genetic testing and audiometry; Genetic testing and audiometry are the interventions of interest

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Pure-tone audiometry	Audiological characteristics	1 year, year 1, according to participant consent
Speech audiometry	Audiological characteristics	1 year, year 1, according to participant consent

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Otoacoustic emission thresholds	Electrophysiological characteristics	1 year, year 1, according to participant consent
Auditory brainstem response	Electrophysiological characteristics	1 year, year 1, according to participant consent

Collaborators and Investigators

• Sponsor: Tobias Moser
• Investigators: Study Director: Tobias Moser, MD, University Medical Center Goettingen; Principal Investigator: Bernd Wollnik, MD, University Medical Center Goettingen; Principal Investigator: Nicola Strenzke, MD, University Medical Center Goettingen; Principal Investigator: Barbara Vona, PhD, University Medical Center Goettingen

Publications and helpful links

Helpful Links

• Registry website in German
• Registry website in English

Study record dates

Study Major Dates

• Study Start (Actual): February 21, 2023
• Primary Completion (Estimated): February 21, 2048
• Study Completion (Estimated): February 21, 2048

Study Registration Dates

• First Submitted: June 5, 2023
• First Submitted That Met QC Criteria: July 6, 2023
• First Posted (Actual): July 14, 2023

Study Record Updates

• Last Update Posted (Actual): December 5, 2023
• Last Update Submitted That Met QC Criteria: November 30, 2023
• Last Verified: November 1, 2023

More Information

Terms related to this study

• Keywords: Natural history study; Otoferlin patient registry
• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Otorhinolaryngologic Diseases; Ear Diseases; Sensation Disorders; Hearing Disorders; Hearing Loss; Deafness
• Other Study ID Numbers: 17/8/22 - 2023-02528

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO
• IPD Plan Description: Pseudonymized data will be published in publications

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No