Gene Therapy for Infants and Children With Otoferlin-Related Auditory Neuropathy Spectrum Disorder

After decades of research focused on hair cell regeneration and the use of stem cells to regenerate the sensory epithelium, gene therapy has now emerged as the first therapy to accomplish the previously impossible task of curing hearing loss. While the current application of gene therapy is narrow, limited to otoferlin-related auditory neuropathy, early results are promising, and the tremendous success of some of the very first children receiving otoferlin gene therapy inspires an era of new research. How to identify potential candidates for otoferlin gene therapy and how to integrate this therapy into our toolbox will be an important area of development for our profession. Genetic testing is the key that opens opportunities for these important novel therapies. Expanding both access to genetic testing and our understanding of pathogenic variants in understudied populations will be important goals to provide hearing broadly for those children who can benefit from these groundbreaking therapies. Whether the early success of otoferlin gene therapy will be replicated in other forms of genetic hearing loss remains an open question.