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.

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.

Inclusion Criteria:

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

Exclusion Criteria:

• Patients with evidence of non-CABP2 molecular genetic diagnoses