2023-09-22 09:59:52
A cure for genetic relapse syndrome has currently been developed, but it has not been able to be used by patients for 8 years because it has not passed the threshold of reimbursement (Photo = Clip Art Korea).
There are diseases where treatment is difficult to use because there are very few domestic patients even if there is a cure. It is ‘genetic relapse syndrome’.
Genetic relapse syndrome is a rare autoinflammatory disease in which the human immune system excessively produces interleukin-1 beta (IL-1β) due to a genetic abnormality, causing permanent damage to the brain, eyes, and joints. In severe cases, it can lead to death.
Genetic relapse syndrome usually appears immediately following birth or in infancy. The problem is that if treatment is missed in time, serious complications such as musculoskeletal disorders, amyloidosis, and hearing loss can occur.
There are various subtypes, including familial Mediterranean fever and cryopyrin periodic syndrome (hereinfollowing CAPS), tumor necrosis factor receptor-related periodic syndrome (hereinfollowing TRAPS), hyperimmune globulin D syndrome, and mevalonic acid kinase deficiency (hereinfollowing HIDS/MKD). Among these, Korea has the largest number of CAPS patients, but there are only regarding 20 of them.
Fortunately, there is a cure for CAPS. CAPS can be worsened by ▲Familial Cold Autoinflammatory Syndrome (FCAS) ▲Muckle-Wells Syndrome (MWS) ▲Neonatal Onset Multisystem Inflammatory Disease (NOMID)/Chronic Infant Neurocutaneous Arthritis Syndrome (CINCA). There are already treatments available to stop it.
The main characters are the interleukin-1 receptor antagonist ‘Kineret (ingredient name: anakinra)’ and the interleukin-1 beta blocker ‘Ilaris (ingredient name: canakinumab)’. However, as Kineret has not yet been approved, Ilaris is the only treatment available in Korea.
Ilaris is administered six times a year to prevent permanent damage to organs that can occur due to CAPS. This drug is used to treat ▲Cryophyrin-Associated Periodic Syndrome (CAPS) ▲Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) ▲Hyperimmune Globulin D Syndrome/Mevalonic Acid Kinase Deficiency (HIDS/MKD) ▲Familial Mediterranean Fever (which is difficult to treat with colchicine) FMF) obtained domestic indication.
In clinical trials, Ilaris showed excellent efficacy. In clinical trials, 97% of CAPS patients administered Ilaris 150mg achieved complete remission within 8 weeks with a single dose during the open-label period. In addition, in a French real-world study comparing 68 adult and pediatric patients who received Ilaris at least once before and 6 and 12 months following treatment, more than 40% of CAPS patients showed improvements in social activities, human relationships, sex life, and vitality. was confirmed, and the guardian’s patient management time was significantly reduced.
However, in reality, Ilaris is difficult to use. Because the number of patients was so small, it might not enter the coverage area. In fact, Novartis applied for benefits in 2017 following approval in 2015, but was rejected.
“The insurance price listed is important, but please think regarding improving a person’s life first rather than the price.”
This story was posted on the petition for public consent on August 16th, but it was of little use.
Professor Jeong Dae-cheol of the Department of Pediatrics at Seoul St. Mary’s Hospital of the Catholic University of Korea said, “Although a treatment for genetic relapse syndrome has been approved, it is currently difficult to use as it is not covered. Ilaris is also covered in countries such as the United States, Japan, and Europe to treat genetic relapse syndrome.” “As it is widely used, I hope that access to treatment will expand in our country as well,” he said.
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