When Will Rare and Intractable Diseases Be Conquered... Overcoming the 'Coverage Threshold' Is the Top Priority

Assemblywoman Choi Hye-young Hosts Discussion on 'Rare and Intractable Disease Treatments Stalled by Health Insurance Hurdles'
Patients and Families Appeal for Direct Reimbursement

Cold Agglutinin Disease, Sanofi's 'NJMO'
Neurofibromatosis, AZ's 'Koselugo'
Approved but Health Insurance Reimbursement Discussions Stalled

"Even if I die, I hope a good new drug will be developed for patients suffering from this disease and used as a treatment. I ask pharmaceutical companies and the government to pay attention."

"The health insurance coverage for (Koselugo) is being discussed, and I am anxiously waiting day by day. The drug is available and people are benefiting from it, so I hope it will be quickly reimbursed to provide help."

On the 14th, attendees are taking a commemorative photo at the forum titled "Rare and Intractable Disease Treatments Facing Health Insurance Hurdles, Focusing on Cold Agglutinin Disease and Neurofibromatosis," hosted by the office of Choi Hye-young, a member of the National Assembly's Health and Welfare Committee from the Democratic Party of Korea, held at the National Assembly Members' Office Building in Yeouido, Seoul.
[Photo by Lee Chun-hee]

With advances in medical and pharmaceutical technology, treatments for rare and intractable diseases, whose causes were once unknown, are continuously emerging. However, even when treatments are developed, the high drug prices?set due to the enormous research and development (R&D) costs involved in new drug development?still prevent many patients and their families from properly accessing these medications. As a result, there are growing calls for faster insurance reimbursement.

On the 14th, at the National Assembly Members' Office Building in Yeouido, Seoul, a forum titled “Rare and Intractable Disease Treatments Stuck at the Health Insurance Hurdle: Focusing on Cold Agglutinin Disease and Neurofibromatosis” was hosted by the office of Choi Hye-young, a member of the National Assembly’s Health and Welfare Committee from the Democratic Party of Korea. The forum repeatedly emphasized the urgent need for prompt insurance coverage for the treatments of the rare diseases Cold Agglutinin Disease (CAD) and Neurofibromatosis.

To highlight this, patients and their families spoke directly at the forum. Yoon Kyung-sook, a patient suffering from Cold Agglutinin Disease, said, "If the temperature drops even slightly, my symptoms worsen, so except for midsummer, I am always wrapped up to prevent the temperature from dropping." She lamented the severity of the disease, saying, "All my organs hurt, I get short of breath, I hear noises in my ears, and I almost died from sepsis during surgery for myocardial infarction and gallstones." Yoon expressed her hope, "Even if I die, I wish a good new drug would be developed and used as a treatment for patients with this disease," and appealed, "I hope pharmaceutical companies and the government will pay attention to and care for the patients."

Lim Soo-hyun, whose son suffers from Neurofibromatosis, said, "Tumors are concentrated in my child's respiratory areas such as the neck and nose, making it dangerous. Surgery is not possible in Korea, and there was no treatment." She added, "Fortunately, a new drug was developed in the U.S., and I heard that clinical trials are being prepared in Korea, so my son has been receiving clinical treatment for just over four years." After participating in the clinical trial, her son's condition improved remarkably. Lim said, "Because of neurofibromatosis in the neck, the airway was compressed, causing severe breathing problems, and he could not sleep without a positive airway pressure device due to severe apnea. After taking the drug, amazingly, after about six months, he was able to sleep without the device," sharing her son's progress.

On the 14th, at the National Assembly Members' Office Building in Yeouido, Seoul, a forum titled "Rare and Intractable Disease Treatments Facing Health Insurance Hurdles, Focusing on Cold Agglutinin Disease and Neurofibromatosis," hosted by the office of Choi Hye-young, a member of the Health and Welfare Committee of the National Assembly from the Democratic Party of Korea, was held. During the forum, Professor Jang Jun-ho of the Department of Hematology and Oncology at Samsung Seoul Hospital explained about Cold Agglutinin Disease.
[Photo by Lee Chun-hee]

The drugs mentioned by the two individuals are Sanofi’s Cold Agglutinin Disease treatment 'Enjaymo' (generic name sutimlimab) and AstraZeneca’s Neurofibromatosis treatment 'Koselugo' (selumetinib), respectively.

Cold Agglutinin Disease is a condition where the body's immune system attacks its own red blood cells, causing continuous and repeated destruction of red blood cells. Due to this destruction, patients suffer from severe anemia, fatigue, shortness of breath, hemoglobinuria, peripheral cyanosis, and thrombotic complications. However, in Korea, there is not even a proper disease code for this condition, making it difficult to accurately count the number of patients. Based on research estimates, there are approximately 100 patients domestically.

Professor Jang Jun-ho of the Department of Hematology and Oncology at Samsung Medical Center explained, "Patients experience skin changes, numbness in hands and feet, whitening of fingertips, and jaundice. It is very painful, but even patients do not fully understand the exact mechanism of the disease." Cold Agglutinin Disease is known to have a mortality rate of 40% within five years after diagnosis, and the average survival after diagnosis is only 8.5 years. Professor Jang emphasized the need for rapid insurance coverage of treatments, saying, "Patients die without knowing why. The drug is already available, and receiving it does not just slow deterioration?it changes lives."

Enjaymo was first approved by the U.S. Food and Drug Administration (FDA) in February last year and subsequently approved overseas, and in July it was also approved domestically.

Enjaymo is the first-in-class humanized monoclonal antibody targeting the C1 protein that activates the classical complement pathway. Clinical trials showed that 73% of patients treated experienced an increase in hemoglobin levels. Fatigue caused by Cold Agglutinin Disease also decreased. However, the path ahead is challenging. To enable rapid insurance reimbursement, the drug must be recognized as a treatment for a rare disease, but the disease itself has not yet been officially designated as rare. Following Enjaymo’s approval, a rare disease designation application was recently submitted to the Korea Disease Control and Prevention Agency, and Sanofi has also recently applied for insurance reimbursement with the Health Insurance Review and Assessment Service.

Sanofi's cold agglutinin disease treatment 'Enjaymo (active ingredient sutimlimab)' (left) and AstraZeneca's neurofibromatosis treatment 'Koselugo (selumetinib)'
[Photo by each company]

Neurofibromatosis type 1 is a rare disease characterized by abnormal cell proliferation throughout the body. It is usually diagnosed before the age of 10, and as the body grows, lesions continue to enlarge, often accompanied by complications such as speech disorders, scoliosis, and severe pain. As of 2020, the estimated number of patients in Korea is about 4,000.

Koselugo, developed by AstraZeneca (AZ), is a treatment for pediatric patients aged three and older with neurofibromatosis type 1 accompanied by inoperable plexiform neurofibromas. It was approved in May 2021 but has yet to receive insurance coverage. However, on the 7th, it finally passed the Drug Reimbursement Evaluation Committee, and discussions on reimbursement have begun to gain momentum again.

At the forum, Professor Lee Beom-hee of the Department of Pediatrics at Asan Medical Center, who prescribes Koselugo to patients through clinical trial participation, emphasized the need for insurance coverage via video. He explained, "Plexiform neurofibromas, which can occur in about 30-50% of neurofibromatosis type 1 patients, grow larger over time, destroying surrounding tissues, causing pain, and in the worst cases, progressing to malignancy." He added, "Koselugo reduces tumor size and has shown clear effects in pain relief." Professor Lee expressed regret that "it has not yet been reimbursed" and said, "I hope the reimbursement process for Koselugo will proceed quickly so that many patients can have treatment opportunities."

Regarding these demands, the Health Insurance Review and Assessment Service, which is responsible for the first stage of reimbursement, stated, "We fully understand the difficulties faced by patients," and added, "We will review further and strive to enable prompt reimbursement." Kim Guk-hee, head of the New Drug Listing Department at the Review Service, said, "Resources are limited, and the negotiation process with pharmaceutical companies on behalf of the public has taken time, which we did not want either," and added, "We are in the same position to list (rare disease new drugs)." He also said, "We have been making many efforts to strengthen access to rare diseases."

Assemblywoman Choi Hye-young also stated, "What is important is the patient's right to information and to know, from the patient's perspective," and added, "If we think from that perspective, progress will be faster." She said, "I will work to create policies that meet the demands of the patients themselves," and concluded, "I will continue to work until the label of 'patient' is removed."

This content was produced with the assistance of AI translation services.