Using an experimental gene therapy, a team led by Chinese scientists restored the hearing of five children born with a genetic defect that left them profoundly deaf. In a first-in-human clinical trial, they demonstrated the safety and effectiveness of gene therapy in treating patients with hereditary deafness, which affects nearly 26 million people worldwide. The research was conducted with the participation of scientists from Southeast University in China and Harvard Medical School in the United States.
Researchers from Fudan University Eye and ENT Hospital developed the gene drug RRG-003 by inserting a human OTOF transgene onto adeno-associated virus. They then identified six eligible children with autosomal recessive deafness 9 . Deafness is caused by a mutation in the OTOF gene that results in sound stimulation signals not being transmitted properly from the ear to the brain.
After administering the drug with a single injection into the patient's inner ear, five participants experienced significant improvement in hearing and speech functions, according to research recently published in the journal Lancet. The average auditory brainstem response threshold increased from over 95 dB at baseline to as high as 26 dB in one participant after 38 weeks. Speech perception was later restored in participants who experienced hearing improvement.
Researchers say gene therapy has been shown to be safe and effective as a new treatment for children with autosomal recessive deafness.
