Neurofibromatosis patients protest unequal access to Koselugo coverage

Patients and doctors are voicing concerns about reimbursement for Koselugo (selumetinib), a new treatment for neurofibromatosis, a rare genetic disease that affects the nervous system, bones, skin, and other areas.

Despite having the same disease and conditions, some patients have been excluded from reimbursement, resulting in confusion within the medical field. Patients are calling for clarification and improvements.

END NF, a neurofibromatosis patient association, held a protest rally on Thursday in front of the Health Insurance Review and Assessment Service (HIRA) in Seocho-gu, Seoul.

“Despite meeting the reimbursement criteria and submitting the necessary documents, inconsistent review and assessment have caused patients to miss treatment opportunities, putting their lives at risk,” the patient association said, condemning the unclear health insurance reimbursement criteria for neurofibromatosis treatments and demanding the establishment of consistent reimbursement criteria.

The protest rally reportedly began after patients were notified of reimbursement cuts without clear justification, despite receiving treatment that met government standards and was recommended by medical professionals.

Neurofibromatosis is caused by genetic mutations that affect the nervous system, bones, and skin. Type 1, the most common form, is typically diagnosed before age 10, with about half of cases hereditary. It is a progressive disease whose symptoms worsen with age.

Ganglioneuromas, which occur in 20–50 percent of patients with neurofibromatosis type 1, can develop in all parts of the body, including deep locations, such as the face, around the spine, and in internal organs. As the body grows, the lesions continue to enlarge, making complete removal through surgery difficult and increasing the risk of recurrence.

Additionally, as tumors grow, they can cause physical deformities, vision, hearing, and cognitive impairments, as well as complications, including scoliosis, organ dysfunction, and severe pain, making it a life-threatening condition.

Fortunately, in May 2021, Koselugo received approval in Korea through the expedited review process, and in January of the following year, health insurance coverage was applied for children aged three to 18 years with neurofibromatosis type 1, accompanied by inoperable plexiform neurofibromas. Additionally, patients aged 19 years or older who have been receiving Koselugo without reimbursement may now be eligible for coverage if their treating physician submits an objective justification for continued treatment, along with a treatment recommendation form.

"If situations where coverage eligibility varies despite the same condition and circumstances persist, decisions that could ultimately determine patients’ lives will continue to be made arbitrarily," said Lim Soo-hyun, president of the END NF. “Neurofibromatosis is not a disease that stops progressing upon reaching adulthood. Instead, symptoms may worsen over time or significantly impact quality of life. The reimbursement criteria focused on children do not reflect reality, and it is necessary to expand the criteria so that patients of all ages can receive equal treatment.”

Professor Lee Beom-hee of the Department of Pediatrics at Asan Medical Center said, “Even though reimbursement criteria currently exist, the fact that the results vary from patient to patient causes great confusion in the medical field. The criteria should not just exist but should be applied fairly and consistently to all patients."