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Recruiting NCT06680934

CABP2 Patient Registry and Natural History Study

— Observational CABP2-related Auditory Synaptopathy Hearing Impairment

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Molecular genetic testing and audiometry.
Who it may be relevant to
Registry conditions: CABP2-related Auditory Synaptopathy, Hearing Impairment. Basic parameters: No limits · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Germany
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Patient Registry for Individuals With CABP2-Associated Hearing Loss

Overview

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.

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.

Interventions

  • Diagnostic test Molecular genetic testing and audiometry
    Genetic testing and audiometry are the interventions of interest

Primary outcome measures

  • Pure-tone audiometry [Time frame: 1 year, year 1, according to participant consent]
  • Speech audiometry [Time frame: 1 year, year 1, according to participant consent]
Secondary outcome measures (2)
  • Otoacoustic emission thresholds [Time frame: 1 year, year 1, according to participant consent]
  • Auditory brainstem response [Time frame: 1 year, year 1, according to participant consent]

Eligibility criteria

Inclusion criteria

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

Exclusion criteria

  • Patients with evidence of non-CABP2 molecular genetic diagnoses

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Case-only

Study locations

Germany · 1 center
  • University Medical Center Goettingen — Göttingen

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. PMID 40927552

Identifiers

NCT: NCT06680934 · 17/8/22 v2.1 - 2023-02528

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗