He was born profoundly deaf in both ears. A destiny written in his DNA. Now, almost 4 months after receiving experimental gene therapy, an 11-year-old was able to hear sounds for the first time in his life: his father's voice, the noise of cars, even the 'click' of the scissors that they cut their hair. Only one ear was treated by doctors at Children's Hospital of Philadelphia, which performed the procedure first in the United States, and the patient's hearing improved enough that he experienced only mild to moderate loss.
The healthcare facility, the Children's Hospital of Philadelphia (Chop), illustrated the case and the details of the experimental treatment used to treat this form of hereditary deafness. To date, experts explain, the results indicate that the therapy has been successful. “Gene therapy for hearing loss is something that we as physicians and scientists have been working on for over 20 years. It's finally here,” says surgeon John A. Germiller, director of clinical research in Chop's Division of Otolaryngology and associate professor at the Perelman School of Medicine-University of Pennsylvania. “The gene therapy we performed on our patient aimed to correct an abnormality in a very rare gene, but these studies – he emphasizes – could open the door to future use for some of the more than 150 other genes that cause hearing loss childish”.
The 11-year-old treated patient suffers from hearing loss mediated by the otoferlin (Otof) gene and was the first to receive this gene therapy in the study. On October 4, 2023, he underwent surgery in the US hospital. The gene therapy was introduced into the inner ear using an endoscope that allows the eardrum to be partially lifted and an experimental medical device to be temporarily inserted into the so-called 'round window', a tiny entry point into the cochlea. A single, small dose of gene therapy containing copies of the normal Otof gene was then administered directly into the inner ear.
To date, it is estimated that approximately one in 500 newborns are affected by some genetic form of hearing loss. In children with Otof-mediated deafness, gene therapy aims, by releasing normal copies of Otof genes in the inner ear, to ensure that sensory cells are able to function by responding to sound and activating the auditory nerve to send impulses to the brain.
These functioning Otof genes are packaged in a vector that is a modified version of a non-pathogenic virus and delivers them into the cells of the cochlea. The carriers are injected directly into the internal fluid during the procedure. Children's Hospital of Philadelphia is one of many centers around the world involved in the clinical trial sponsored by Akouos, a wholly owned subsidiary of Eli Lilly and Company.
“As more patients of different ages are treated with this gene therapy, researchers will learn more about the degree of hearing improvement and test whether this level of hearing can be sustained for many years,” concludes Germiller. “What we have learned from following this patient's progress will help us direct our efforts to help as many patients as possible.”
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