Otoferlin Patient Registry and 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 otoferlin (OTOF). 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 Göttingen.

Main objective criterion:

To increase understanding of natural history, types of genetic variants and to facilitate clinical and basic research on otoferlin-associated hearing impairment.

Secondary objective criterion:

To improve knowledge to better characterize individuals with otoferlin-associated hearing impairment in the long term and create prerequisites for improved, patient tailored therapy and care.

Inclusion criteria

• A molecular genetic diagnosis involving biallelic variants in otoferlin (OTOF) and audiometry

Exclusion criteria

• Patients with evidence of non-OTOF molecular genetic diagnoses