CABP2 Patient Registry and Natural History Study

Patient Registry for Individuals With CABP2-Associated Hearing Loss

This registry is designed to collect comprehensive information about the molecular genetic diagnoses and clinical information of individuals with CABP2-associated hearing impairment to support a natural history study.

Study Overview

• Status: Recruiting
• Conditions: Hearing Impairment; CABP2-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 CABP2. 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 Goettingen.

• Study Type: Observational
• Enrollment (Estimated): 100

Contacts and Locations

• Study Contact: Name: Tobias Moser, MD; Phone Number: +49-551-39-63070; Email: tmoser@gwdg.de
• Study Contact Backup: Name: Barbara Vona, PhD; Phone Number: +49-551-38-51337; Email: barbara.vona@med.uni-goettingen.de

Study Locations

• Germany
  • Göttingen, Germany, 37075
    • Recruiting
    • University Medical Center Goettingen
    • 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
    • Contact: Barbara Vona, PhD; Phone Number: +49-551-38-51337; Email: barbara.vona@med.uni-goettingen.de

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 genetic diagnosis involving CABP2

Description

Inclusion Criteria:

• A molecular genetic diagnosis involving biallelic variants in CAPB2 and audiometry

Exclusion Criteria:

• Patients with evidence of non-CABP2 molecular genetic diagnoses

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
CABP2 participant group; Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2	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	Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels	1 year, year 1, according to participant consent
Speech audiometry	Speech audiometry is a test or series of tests to determine a patient's ability to discriminate speech sounds and hearing speech or speech in noise	1 year, year 1, according to participant consent

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Otoacoustic emission thresholds	Otoacoustic emission thresholds serve as indicators of integrity and function of the outer hair cells in the cochlea	1 year, year 1, according to participant consent
Auditory brainstem response	Auditory brainstem response tests the functional status of the auditory neural pathway	1 year, year 1, according to participant consent

Collaborators and Investigators

• Sponsor: University Medical Center Goettingen
• 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

General Publications

• Vona B, Wollnik B, Strenzke N, Pangrsic T, Moser T. Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry. MedComm (2020). 2025 Sep 8;6(9):e70363. doi: 10.1002/mco2.70363. eCollection 2025 Sep.

Helpful Links

• Registry website in English
• Registry website in German

Study record dates

Study Major Dates

• Study Start (Actual): August 16, 2024
• Primary Completion (Estimated): August 16, 2049
• Study Completion (Estimated): August 16, 2049

Study Registration Dates

• First Submitted: November 3, 2024
• First Submitted That Met QC Criteria: November 7, 2024
• First Posted (Actual): November 8, 2024

Study Record Updates

• Last Update Posted (Actual): January 27, 2026
• Last Update Submitted That Met QC Criteria: January 23, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Keywords: Patient registry; CABP2 patient registry; DFNB93
• Additional Relevant MeSH Terms: Neurologic Manifestations; Nervous System Diseases; Otorhinolaryngologic Diseases; Sensation Disorders; Ear Diseases; Hearing Disorders; Pathological Conditions, Signs and Symptoms; Signs and Symptoms; Hearing Loss; Diagnostic Techniques and Procedures; Diagnosis; Hearing Tests; Diagnostic Techniques, Otological; Audiometry
• Other Study ID Numbers: 17/8/22 v2.1 - 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
• product manufactured in and exported from the U.S.: No