[0.1% Fighting Rare Diseases]② "1.1 Billion Won Treatment Not Covered... National Health Insurance Is the Only Hope"

[Editor's Note] Each year, about 50,000 people, or 0.1% of the total population, are diagnosed with rare diseases. Early diagnosis is difficult, so most patients only realize they have a rare disease after reaching adulthood. Treatments are often expensive and not covered by health insurance. Through the voices of rare disease patients and their families, we explore the realities they face and seek measures for diagnosis and treatment.

"The treatment has been developed, but the drug price exceeds 1 billion KRW? There's no way I can afford that."

Mr. Kim, in his 30s and living in Busan, is a patient with retinitis pigmentosa, a rare disease that gradually causes vision loss. Since childhood, he had difficulty seeing in the dark compared to others. He thought it was normal. At age 20, during his military physical examination, he was exempted due to eye problems and diagnosed with a hereditary retinal disease. The hospital told him "there is no separate treatment," so he has only been taking vitamin A and other supplements believed to be good for the eyes.

Therapeutic agent image [Image source=Pixabay]

Good news for retinal disease patients... but the non-reimbursed drug price of 1.1 billion KRW shatters hopes

Hope arose for Mr. Kim, who does not know when he might go blind. In September 2021, the Ministry of Food and Drug Safety approved Luxturna (Novartis), a one-time gene therapy that corrects the ‘RPE65 mutation,’ one of the causes of hereditary retinal diseases. However, since the pharmaceutical company's supply price is $850,000 (about 1.13 billion KRW), it is useless unless it is listed for health insurance reimbursement. The Health Insurance Review and Assessment Service (HIRA) held the first step of reimbursement evaluation, the Drug Reimbursement Evaluation Committee, on the 2nd, and discussed Luxturna, but failed to reach an agreement with the pharmaceutical company and decided not to reimburse it.

An official from the Health Insurance Policy Division of the Ministry of Health and Welfare said, "Since Luxturna is an extremely expensive treatment, the post-management criteria (which indicate the treatment's effectiveness) proposed by the committee differed from the pharmaceutical company's standards," adding, "The gap could not be narrowed, resulting in a final decision of non-reimbursement." Mr. Kim said, "I have lived holding onto the hope that a treatment would be developed someday, but the non-reimbursement decision was devastating," and added, "I am eagerly waiting for it to be reimbursed."

Rare disease patients say that even after receiving a difficult diagnosis, "it is only the beginning of hardship." Because the number of patients with specific rare diseases is extremely small and medical professionals familiar with these diseases are rare, the development of treatments is slow. Even if a long-awaited treatment is developed, if it is expensive and not listed for health insurance reimbursement, it is just a "pie in the sky" for patients. According to an analysis by the Korea Rare and Intractable Disease Association of rare disease treatment approvals and reimbursement status from 2011 to 2020, out of 127 rare diseases approved during this period, only 71 treatments were listed for health insurance reimbursement.

"Even if reimbursed, sometimes administration is impossible"

Even when treatments are listed for reimbursement, challenges remain. The spinal muscular atrophy (SMA) treatment Zolgensma (Novartis) was reimbursed last year, and Spinraza (Biogen) was reimbursed in 2019. Patients gained access to treatments priced at about 2 billion KRW and 100 million KRW respectively. Zolgensma is reimbursed only for infants under 12 months, so Mr. Woo (51) must receive Spinraza. However, having suffered from the disease for a long time, Mr. Woo's spine is curved, making it impossible to properly inject into the spinal canal with a syringe. Last year, he was hospitalized to receive Spinraza, but medical staff failed to locate the spinal canal and had to insert the syringe into his body more than ten times. Mr. Woo said, "I couldn't bear to receive injections every four months," and "I developed severe trauma related to syringes and decided to stop treatment."

Instead, Mr. Woo chose the oral treatment Evrysdi (Roche). He must take one bottle every 11 days, but since it is not reimbursed, the drug costs 1 million KRW. Mr. Woo said, "I was selected for a program by the Korea Rare and Intractable Disease Association that provides Evrysdi free of charge to some SMA patients, so I am okay for now, but I worry because eventually patients will have to bear the drug costs themselves." He added, "Although it is an oral treatment, I felt the disease progression slowed significantly after taking it, so the effect is good." HIRA is currently reviewing whether to bring Evrysdi to the Drug Reimbursement Evaluation Committee stage.

Mr. Woo, who had difficulty properly puncturing the spinal canal to administer 'Spinraza,' chose the oral medication 'Evrysdi' instead. However, since it is not covered by insurance, the medication costs up to 1 million won.
[Photo by the individual]

"Social consensus needed on reimbursement of high-cost treatments"

HIRA proposes risk-sharing and total cost caps to pharmaceutical companies as conditions for health insurance coverage, especially for ultra-high-cost treatments. This is to prevent paying expensive prices with health insurance funds when the treatment is ineffective or to preemptively stop abuse of health insurance finances due to excessive reimbursement claims. Professor Kim Yoon of Seoul National University’s Health Management Department explained, "Health insurance must be operated efficiently with limited public funds, so the more expensive the treatment, the stricter the effectiveness verification," adding, "Because if applied to other diseases, many patients can benefit from the same amount of money." However, he also noted, "Since rare disease patients live with pain from birth, it is not always possible to apply economic principles alone. This is an area where social consensus is needed."