Samsung Medical Center said Wednesday that it has succeeded subretinal injection of gene therapy Luxturna (ingredient: voretigene neparvovec) in a patient with inherited retinal degeneration for the first time in Korea.
Luxturna received approval from the U.S. Food and Drug Administration in 2017 as a wonder drug for treating patients carrying inherited retinal degeneration with mutated RPE65 genes.
RPE65 mutation causes Leber's congenital amaurosis, which reduces the function of photoreceptor cells in the retina. Patients with RPE65 mutation have difficulty transmitting light to the optic nerve and induce severe night blindness, blurred vision, contraction in a visual field, and possibly becoming blind.
Luxturna copies the normal RPE65 gene to the adeno-associated virus, made harmless to the human body, and then functions as a normal RPE65 gene in the patients' retina.
A medical team, led by Professor Kim Sang-jin of the Department of Opthalmology, performed the first operation in Korea to administer Luxturna to a woman in her 20s with Leber's congenital amaurosis.
The patient first suffered from low vision after five months of birth and could not stare blankly at the window or make eye contact properly. She gradually lost her sight, and the hospital diagnosed that the vision could not be corrected.
Professor Kim confirmed the patient's RPE65 gene mutation through genetic testing. Still, Luxturna had not yet been approved in Korea, unlike other countries, including the U.S. and Europe.
However, Kim figured out a way by contacting Novartis, which has exclusive rights of Luxturna outside the U.S. and injected the drug.
After the administration, the patient somewhat recovered her sight with an expanded visual field. She also showed an improvement in night blindness. "I never knew the world was so bright, and I want to go to cinema myself, where I did not dare to visit even when I wanted to,” the patient was quoted as saying about one month after the administration.
"Even domestic ophthalmologists conclude that inherited retinal degeneration is an incurable disease and be passive in attempting genetic diagnosis," Professor Kim said. "There is only one gene-targeting therapy available for now, but we expect several more gene therapies to be developed within the next few years."