1st use of reimbursed Luxturna in Korea treats patient with inherited retinal degeneration

Samsung Medical Center (SMC) has successfully treated a local patient with inherited retinal degeneration using reimbursed Luxturna, sold by Novartis, for the first time in the nation, following the approval for health insurance coverage of the drug in February.

Luxturna was approved by the U.S. Food and Drug Administration (FDA) in 2017 for treating inherited retinal degeneration in patients with a mutation in the RPE65 gene, which causes Leber's Congenital Amaurosis and retinitis pigmentosa.

Professor Kim Sang-jin of the Department of Ophthalmology at SMC and his team successfully performed the first Luxturna surgery in Korea in July 2021. This was the first surgery in about three years. Two patients at the hospital, who were approved for treatment by the Health Insurance Review and Assessment Service (HIRA) in February, underwent the surgery in March and April, respectively.

The two patients suffer from hereditary retinal degeneration caused by a mutation in the RPE65 gene. This mutation decreases the function of retinal optic cells, resulting in severe night blindness, decreased visual acuity, narrowing of the field of vision, eye tremors, and eventually blindness. Patients often cannot detect light or only see as much as a single light in total darkness, even in brightly lit areas.

Luxturna works by inserting the normal RPE65 gene into a non-infectious adeno-associated virus and injecting it into the patient's retina to turn on the normal gene instead of the mutant gene.

U.S. clinical trials have shown that although the treatment does not restore normal vision, it can prevent permanent vision loss and restore visual function, enabling patients to live independently and improving their perception. At the postoperative follow-up in April, patients who underwent the first surgery in March this year were also confirmed to have confirmed vision, sensitivity, and night vision.

The price of Luxterna in Korea is about 650 million won ($47,200) for both eyes, cheaper than in the U.S. and Japan. The patient's out-of-pocket expenses are capped at a maximum of some 8 million won per patient, depending on income. The postoperative hospitalization period is also short; patients can be discharged the next day after surgery. However, both eyes must be operated on about a week apart.

SMC said this surgery is one of the major achievements of its Center for Rare Diseases. In January, the center was designated as a rare disease specialty center in Seoul. This designation refers to a medical institution conducting medical treatment and research for patients with rare diseases, as well as registration and statistics.

A nationally designated rare disease center's detailed projects include establishing a rare disease clinical cohort. Based on the clinical cohort, they actively attract new drug clinical trials to provide patient treatment opportunities. Once a patient disease model for gene therapy development is established, they contribute to developing therapies in conjunction with the research.

In addition to inherited retinal degeneration diseases, such as Leber congenital amaurosis, the current gene therapy research includes neurogenetic diseases, inborn errors of metabolism,  utaneous neurological syndromes, T-lymphocytic leukemia,  TKI-refractory brain metastatic cancer, neonatal intraventricular hemorrhage, and bronchopulmonary dysplasia in preterm infants.

"We are pleased to be able to continue our first attempt to operate on a patient with Leber congenital amaurosis three years ago and to continue to do so through pharmacovigilance," Professor Kim said. "Even after a treatment is created, it is often difficult to translate it into actual treatment due to cost, and we hope that many patients will benefit from Luxturna’s reimbursement."

Of the more than 100 genes that cause inherited retinal degeneration, only one gene is commercially available for treatment, and there is a need to accelerate the development of new treatments, Kim added.

Dr. Lee Jee-hun, a professor of pediatrics, director of the Center for Rare Diseases, and head of the Center for Gene Therapy Research, said, "The achievement of this surgery has set a major example for the treatment of rare diseases, from the registration of patients with rare diseases to the establishment of national policies such as reimbursement for surgery."

Professor Lee added that the Center for Rare Diseases at Samsung Medical Center will continue to conduct research on the diagnosis and treatment of rare diseases so that many patients with rare diseases can receive such treatment.