CABP2 Patient Registry and Natural History Study

Recruiting

• Conditions: CABP2-related Auditory Synaptopathy; Hearing Impairment

• Registration Number: NCT06680934
• Lead Sponsor: University Medical Center Goettingen

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.

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 Timeline

• Study Start: 2024-08-16
• Study First Submitted: 2024-11-03
• Study First Submitted QC: 2024-11-07
• Study First Posted: 2024-11-08
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-17
• Last Update Posted: 2025-05-22
• Primary Completion: 2049-08-16
• Study Completion: 2049-08-16

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Pure-tone audiometry	1 year, year 1, according to participant consent	Pure tone audiometry is a behavioral hearing test used to measure an individual's hearing threshold levels
Speech audiometry	1 year, year 1, according to participant consent	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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

University Medical Center Goettingen; 🇩🇪 Göttingen, Germany