Etablierung eines weltweit zugänglichen Registers für die auditorische Synaptopathie DFNB9 (OTOF)

The autosomal recessive inherited auditory synaptopathy DFNB9 is caused by mutations in the OTOF gene and manifests itself in most cases as congenital deafness with absent ABR but preserved otoacoustic emissions. In rarer cases, residual hearing is present, albeit with significant impairment of speech comprehension, sometimes with pathological hearing fatigue and/or dependence of hearing on body temperature. The cause is a disturbance in the release and/or replenishment of the glutamate-filled vesicles at the synapse of the inner hair cell in the absence of the hair cell-specific protein otoferlin. Several animal studies and initial studies in humans show the feasibility in principle of restoring hearing through virus-mediated gene therapy. In order to advance clinical research, we have established a “RedCap” database in which patients, their relatives and doctors can enter information on phenotype, genotype and inheritance patterns in pseudonymized format. The study scientists can also contact the participants – provided they have given their consent in electronic format. The study is listed in ClinicalTrials.org and will enable a better overview of the incidence and clinical patterns of DFNB9, including genotype–phenotype correlations, the success of different treatments, as well as patient involvement in research.