New breakthrough in treatment of hearing loss caused by gene mutations

According to an announcement on January 23 from the Children's Hospital of Philadelphia, patient Aissam Dam (11 years old) heard for the first time the sounds of life such as her father's voice, the sound of cars passing by and the sound of hair cutting scissors.

Aissam Dam was born “profoundly deaf” due to an extremely rare genetic defect. A defective gene prevents the production of Otoferlin, a protein needed by hair cells in the inner ear to convert sound vibrations into chemical signals that are transmitted to the brain.

Otoferlin gene defects are very rare, occurring in only 1-8% of cases of congenital hearing loss.

Aissam Dam underwent surgery on October 4, 2023. Doctors lifted a portion of her eardrum and injected a harmless virus that had been engineered to deliver working copies of the Otoferlin gene into the fluid inside her cochlea. As a result, the hair cells began producing the missing protein and functioning normally.

Nearly four months after receiving treatment in one ear, Aissam's hearing has improved significantly. She is now diagnosed with mild to moderate hearing loss and "can actually hear for the first time in her life."

Gene therapy for hearing loss is something doctors and scientists have been working toward for more than 20 years and have finally succeeded, said surgeon John Germiller, director of clinical research in the Department of Otolaryngology at Children's Hospital of Philadelphia.

“Although the gene therapy we performed in our patient was aimed at correcting an abnormality in a very rare gene, these studies may open up future applications for some of the more than 150 other genes that cause hearing loss in children,” said Dr. John Germiller.

Minh Hoa (t/h according to Vietnam+, Saigon Giai Phong)

Source: https://www.nguoiduatin.vn/dot-pha-moi-trong-dieu-tri-khiem-thinh-do-dot-bien-gene-a647272.html