MM208 - Congenital Hearing Loss: Gene Therapy and an Update on the CHORD Clinical Trial

Abstract:
Genetic hearing loss accounts for more than half of congenital deafness. Audiologists are poised to play a key role in the diagnosis and management of genetic deafness. Here we will review genetic causes of hearing loss as well as review the current landscape for novel precision gene therapy development to treat congenital hearing loss. Finally, we will share the latest results from Regeneron’s ongoing first-in-human gene therapy clinical trial (CHORD) for pediatric patients with otoferlin related hearing loss.

Summary:
This learning module will provide an overview of the causes of pediatric hearing loss including the role of genetics. The role of genetic testing and the clinical journey that patients being diagnosed with hearing loss will be reviewed. Finally, the talk will focus on the development of treating genetic causes of hearing loss and share emerging data from an ongoing first in human clinical trial for treating otoferlin related hearing loss. The instructional level of fundamental was chosen as the authors will provide easy to follow concepts of the role of genetics in causing hearing loss. These concepts will then be applied in the form of developing a gene therapy and its application in children participating in an ongoing clinical trial. Key clinical takeaways will include why it is important to have patients with hearing loss undergo genetic testing, the role audiologists play in that process, as well as how advances in technology have enabled development of new approaches which are being tested to treat pediatric forms of hearing loss. All concepts and data reviewed throughout the presentation will not require previous content knowledge from the audience, and as such, the learning module will be heavily based on providing a didactic session that easily helps the audience understand the topics and see a simple application in the form of clinical trial results.

Brief Summary of Clinical Takeaways:
The clinical takeaway for this session is that many congenital forms of hearing loss often have an underlying genetic etiology. As our understanding of the genetics of hearing loss continues to evolve, new approaches geared toward treating pediatric forms of hearing loss are being tested in clinical trials.