A Chinese company's experimental gene therapy has successfully restored hearing in children suffering from congenital deafness. This significant achievement, reported by Agerpres, adds to the growing evidence of the effectiveness of gene therapy treatments.
Refreshgene Therapeutics developed the therapy, and its impact was evident in a study published in The Lancet medical journal. Five out of six young children with profound deafness experienced hearing restoration and speech recognition improvement six months post-treatment.
Zheng-Yi Chen, associated with Massachusetts Eye and Ear and Harvard Medical School, partook in this clinical study. He remarked on the study's remarkable results, noting the week-by-week improvement in the children's auditory abilities and their regained capacity to speak.
The children in the study all had profound deafness due to mutations in the OTOF gene, which encodes the protein otoferlin essential for transmitting sound signals from the ear to the brain. OTOF mutations are responsible for 2% to 8% of congenital deafness cases. In the United States alone, one in every 1,000 children is born with moderate to profound hearing loss.
The gene therapy involved a harmless virus used to deliver a version of the human OTOF gene into the patients' inner ears, conducted at the Eye & ENT Hospital of Fudan University in Shanghai. After 26 weeks, five of the six children regained their hearing, demonstrating significant improvements in speech perception and conversational ability. Researchers noted that the majority of side effects were minor, with none having long-term impacts.
One child did not respond to the treatment, the reasons for which remain unclear. One hypothesis is that part of the hydrolyzed solution used in the gene therapy leaked from the inner ear during or after the surgery. Refreshgene Therapeutics is also collaborating with OBiO Technology Shanghai on a gene therapy for age-related neovascular macular degeneration.
A separate medical team recently announced the restoration of hearing in an 11-year-old child, the first patient to receive the OTOF gene therapy developed by Eli Lilly. In October 2023, Regeneron Pharmaceuticals reported positive safety and efficacy results for the first child with profound deafness linked to the OTOF gene who received a therapy based on the gene coding for otoferlin. The updated results of these clinical trials will be presented at the winter meeting of the Association for Research in Otolaryngology.
Zheng-Yi Chen summed up the significance of these developments, stating, "Since the invention of cochlear implants 60 years ago, there has been no effective treatment for deafness. This marks a massive milestone, symbolizing a new era in the fight against all types of hearing loss."
