Patients diagnosed with hearing loss due to variants in the otoferlin gene, or OTOF, can now participate in a specific registry at the University Medical Center Göttingen (UMG). The registry, which is administrated in a collaboration by the Institute of Human Genetics and the Institute of Auditory Neuroscience, connects patients with scientists that are experts in the research into various forms of hearing loss, their genetic basis and potential new approaches for their treatment.

The database is open to affected adults and children/adolescents (with their parents‘ consent). Information will be collected on the participant’s medical history, the natural history of the hearing impairment, the treatment, and relevant genetic data of the affected person. Data will be pseudonymized, processed and stored in accordance with the European General Data Protection Regulation. The study is led by PD Dr. Barbara Vona and aims at providing new insights into the mechanisms leading to this specific form of hearing loss and contributing to the development of new therapeutic approaches. Participants may choose to be contacted in the future to receive information about available clinical studies and therapeutic options at the UMG.

Hearing impairment belongs to the most common congenital conditions. Most cases of congenital hearing loss are due to genetic defects, and thousands of variants in hundreds of genes have been found to be responsible for hearing loss. One of these genes is OTOF. It contains the genetic information to produce otoferlin, a protein contained in the auditory sensory cells of the inner ear and is essential for transmitting acoustic signals from the inner hair cells to the auditory nerve cells.

Patients who wish to participate in the registry are invited to download an information leaflet from a specific registry website. Using a secured online system, they can then complete a consent form and a questionnaire. If they wish they can also upload clinical documentation like hearing test and genetic test findings.

The registry study has been approved by the Ethics Committee of the University Medical Center Göttingen.

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