An 11-year-old boy was able to hear sounds in his surroundings, for the first time in his life, after receiving advanced gene therapy.
Children's Hospital of Philadelphia (CHOP), which performed the first treatment of its kind in the United States, said this achievement represents hope for patients around the world who suffer from hearing loss caused by genetic mutations.
Aisam Dam was born “profoundly deaf” due to an extremely rare defect in a single gene.
“While the gene therapy we performed in our patient was aimed at correcting a defect in one very rare gene, the studies may open the door to the future use of some other genes that may cause cancer,” said surgeon John Germiller, director of clinical research in the Department of Otolaryngology at CHOP. "More than 150 genes cause hearing loss in children."
Dame's defective gene prevents the production of autoferlin, a protein necessary for "hair cells" in the inner ear to be able to convert sound vibrations into chemical signals that are sent to the brain.
Autoferlin gene defects are extremely rare, accounting for 1 to 8% of hearing loss cases present at birth.
On October 4, 2023, the patient underwent surgery that involved partially lifting the eardrum and then injecting a harmless virus, which had been modified to carry working copies of the autoferlin gene, into the inner fluid of the cochlea.
As a result, the hair cells began to produce the missing protein and function properly.
The hospital statement stated that after about four months of receiving treatment in one ear, Dam's hearing improved to the point that he only suffers from mild to moderate hearing loss, and he "literally hears sound for the first time in his life."
The New York Times reported that despite his ability to hear, Dame, who was born in Morocco and later moved to Spain, may never learn to speak, as the brain's window for acquiring speech closes around the age of five.
The US Food and Drug Administration, which gave the green light to the study, wanted to start research on older children first, for safety reasons.
The trial, sponsored by Akouos, Inc., a wholly-owned subsidiary of Eli Lilly and Company, is one of several underway or about to begin in the United States, Europe and China, where a small number of other children have already been cured.
Source: ScienceAlert - Publication date: 25/01/2024