CABP2 Patient Registry and Natural History Study

NCT06680934 | Recruiting

• 1 other identifier: 17/8/22 v2.1 - 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 and clinical information of individuals with CABP2-associated hearing impairment to support a natural history study.

Conditions

Hearing Impairment; CABP2-related Auditory Synaptopathy

Keywords

CABP2 patient registry; Patient registry; DFNB93

Outcome Measures

Primary Outcomes (2)

• 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 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)

CABP2 participant group

Individuals with hearing impairment who have a molecular genetic diagnosis involving CABP2

Diagnostic Test: Molecular genetic testing and audiometry

Interventions

Molecular genetic testing and audiometry DIAGNOSTIC_TEST

Genetic testing and audiometry are the interventions of interest

CABP2 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 genetic diagnosis involving CABP2

You may qualify if:

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

You may not qualify if:

• Patients with evidence of non-CABP2 molecular genetic diagnoses

Sponsors & Collaborators

• University Medical Center Goettingen: lead

Study Sites (1)

University Medical Center Goettingen

Göttingen, 37075, Germany

RECRUITING

Related Publications (1)

• 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.

  PMID: 40927552 RESULT

Related Links

• Registry website in English
• Registry website in German

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: PRINCIPAL INVESTIGATOR
• PI Title: Prof.

Study Record Dates

• First Submitted: November 3, 2024
• First Posted: November 8, 2024
• Study Start: August 16, 2024
• Primary Completion (Estimated): August 16, 2049
• Study Completion (Estimated): August 16, 2049
• Last Updated: January 27, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)