Regeneron Pharmaceuticals’ gene therapy, DB-OTO, has shown promising initial results in improving hearing for children with otoferlin gene mutations, offering a potential biological solution to congenital deafness. This breakthrough highlights a transformative approach in treating genetic causes of hearing loss, paving the way for future advancements in deafness management worldwide.
According to the World Health Organization (WHO), approximately 5% of the global population experiences disabling hearing loss, a condition that profoundly impacts daily life by hindering communication, educational opportunities, and overall quality of life. The causes of hearing loss are diverse and can vary widely based on factors such as age, environmental exposures, infections, trauma, and genetic predispositions.
Genetic mutations are significant contributors to hearing loss, particularly in cases of congenital deafness. Mutations affecting specific genes like OTOF, which encodes otoferlin—a crucial protein involved in the fusion of synaptic vesicles in the inner ear—can disrupt the transmission of sound signals from sensory cells to the auditory nerve. This disruption leads to profound deafness from birth and underscores the complexity of genetic factors in hearing impairment.
Understanding the diverse etiologies of hearing loss is crucial for developing targeted therapies like gene therapy. Innovations such as DB-OTO represent promising advancements in addressing genetic causes of deafness, offering potential solutions to restore or improve hearing function in affected individuals. By targeting specific genetic defects, these therapies aim to provide personalized treatment options that could revolutionize the management of hearing loss across different populations globally.
In the ongoing CHORD clinical trial, DB-OTO demonstrated improved hearing in two children with profound genetic deafness: one achieved normal hearing within 24 weeks starting treatment at 11 months, while another showed initial improvements after 6 weeks at the age of 4. Recruitment for this groundbreaking trial continues across multiple countries including the United Kingdom, Spain, and the United States, underscoring the global effort to advance treatment options for otoferlin-related deafness.
These findings mark a pivotal advancement in the field, offering a transformative alternative to traditional treatments like cochlear implants. Unlike implants that convert sound into electrical signals, gene therapy aims to restore natural cellular functions, potentially paving the way for future therapies targeting various genetic causes of hearing impairment. This progress holds promise for revolutionizing the management and treatment of deafness worldwide.
By Tasnim Mohamed, Department of Pharmacological and Biomolecular Sciences, University of Milan
Link and doi of the pubblication: https://doi.org/10.1038/s41587-024-02292-2