CABP2 Patient Registry and Natural History Study

University Medical Center Goettingen

Status: Enrolling

Conditions: CABP2-related Auditory Synaptopathy; Hearing Impairment

Treatments: Diagnostic Test: Molecular genetic testing and audiometry

Study type: Observational

Funder types: Other

Identifiers

NCT06680934

17/8/22 v2.1 - 2023-02528

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• Patients with evidence of non-CABP2 molecular genetic diagnoses

Trial design

100 participants in 1 patient group

CABP2 participant group

Description:

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

Treatment:

Diagnostic Test: Molecular genetic testing and audiometry