Building upon success following release of the first patient registry for isolated hearing impairment due to otoferlin-related hearing impairment in late 2023, we are pleased to announce the addition of a second registry for patients with CABP2 (DFNB93) diagnoses. This dedicated database is a collaborative effort between the Institute of Human Genetics and Institute for Auditory Neuroscience at the University Medical Center Göttingen (UMG). The study aims to achieve deeper insights into the phenotype of patients, which, generally remains limited to sensorineural hearing loss. However, analysis of the mechanism in animal models suggests that the underlying mechanism may be more accurately characterized as auditory synaptopathy. This study also hopes to contribute to the development of new therapeutic approaches.

Adults, children, or minors (with parental consent), who have received a CABP2 genetic diagnosis are welcome to register. Participants can provide details on their medical history, progression of hearing impairment, treatment and genetic data. All data will be stored in pseudonymised form in compliance with the European General Data Protection Regulation (GDPR) for research purposes.

The registry aims to empower patient-driven science on a gene that has been a focus of research at the Göttingen campus for many years. To learn more about the registry, please follow this link:

The registry study has received ethical approved from the Ethics Committee of the University Medical Center Göttingen.

Contact: PD Dr. Barbara Vona, barbara.vona@med.uni-goettingen.de