Otoferlin Patient Registry and Natural History Study

NCT05946057 | Recruiting

• 1 other identifier: 17/8/22 v1.1 - 2023-02528
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Otoferlin-related Auditory Synaptopathy; Hearing Impairment

Keywords

Otoferlin patient registry; Natural history study

Outcome Measures

Primary Outcomes (2)

• 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 Outcomes (2)

• Otoacoustic emission thresholds

  1 year, year 1, according to participant consent

• Auditory brainstem response

  1 year, year 1, according to participant consent

Study Arms (1)

Otoferlin participant group

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

Diagnostic Test: Molecular genetic testing and audiometry

Interventions

Molecular genetic testing and audiometry DIAGNOSTIC_TEST

Genetic testing and audiometry are the interventions of interest

Otoferlin participant group

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• Patients with evidence of non-OTOF molecular genetic diagnoses

Sponsors & Collaborators

• Tobias Moser: lead

Study Sites (1)

University Medical Center Goettingen

Goettigen, Lower Saxony, 37075, Germany

RECRUITING

Related Publications (1)

• 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 RESULT

Related Links

• Registry website in German
• Registry website in English

MeSH Terms

Conditions

Hearing Loss

Interventions

Audiometry

Condition Hierarchy (Ancestors)

Hearing Disorders; Ear Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Hearing Tests; Diagnostic Techniques, Otological; Diagnostic Techniques and Procedures; Diagnosis

Study Officials

• Tobias Moser, MD

  University Medical Center Goettingen

  STUDY DIRECTOR

• 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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Barbara Vona, PhD

CONTACT

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

Tobias Moser, MD

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Target Duration: 25 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Prof.

Study Record Dates

• First Submitted: June 5, 2023
• First Posted: July 14, 2023
• Study Start: February 21, 2023
• Primary Completion (Estimated): February 21, 2048
• Study Completion (Estimated): February 21, 2048
• Last Updated: May 28, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)