Expectations are rising in the field for the hereditary recurrent fever syndrome Ilaris (canakinumab), which was granted reimbursement 9 years after approval.

As a treatment for an extremely rare disease with a small number of patients, its reimbursement is expected to address unmet needs in an area with no treatment option.

However, due to the nature of rare diseases, many patients suffer through a diagnostic odyssey, so efforts to diagnose patients quickly, such as by improving disease awareness, would be necessary to maximize the reimbursed use of Ilaris.


Novartis Korea held a press conference on the 8th to highlight the implications of Ilaris’s reimbursement coverage for hereditary periodic fever syndrome (CAPS, TRAPS, FMF) in Korea.

Hereditary periodic fever syndromes are a group of rare auto-inflammatory diseases characterized by periodic episodes of unexplained fever and rashes throughout the body, including cryopyrin-associated periodic syndromes (CAPS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), and familial Mediterranean fever (FMF).

In addition to ▲CAPS, ▲TRAPS, and ▲FMF, Ilaris can be prescribed in Korea for ▲hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) and ▲systemic juvenile idiopathic arthritis (JIA).

In the case of the CAPS indication, it is further categorized into the following symptoms: ▲Familial cold autoinflammatory syndrome (FCAS)/ familial cold urticaria (FCU) ▲Muckle-Wells syndrome (MWS) ▲Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurological, cutaneous and articular syndrome (CINCA).

"All three of these indications are extremely rare diseases, and many patients suffer through a diagnostic odyssey that prevents them from receiving an accurate diagnosis," said Dae-Chul Jeong, professor of Pediatrics at Seoul St. Mary's Hospital, "even after diagnosis, their treatment options were very limited, which was frustrating for them and us as medical professionals."

In this situation, Professor Jeong believes that the long-awaited Ilaris's reimbursement approval will enable higher utilization of the drug.

Ilaris is an interleukin-1 (IL-1) inhibitor recommended for the treatment of CAPS in the 2021 international guidelines of the European Congress of Rheumatology and the American College of Rheumatology.

In a Phase III study, the drug demonstrated significant clinical benefit in remission after a single dose and remission rate at 6 months and can be administered every 8 weeks in patients with CAPS, improving the quality of life for patients and their caregivers.

In the CLUSTER study, which included 46 patients with TRAPS and 63 patients with colchicine-resistant FMF, 45% (n=10/22) of TRAPS patients treated with Ilaris 150 mg and 61% (n=19/31) of colchicine-resistant FMF patients achieved a complete response at week 16.

"With the reimbursement of Ilaris, patients with hereditary recurrent fever syndrome who had limited treatment options will be able to benefit from the use of standard therapy," said Keun-Sung Lee, Director of Medical Affairs at Novartis Korea. "The reimbursement approval is significant as it will allow patients and their families to benefit from the improved quality of life by reducing the number of dosing required, as these diseases require long-term treatment.”

Also, the importance of diagnosis in order to access the benefits of Ilaris had been emphasized at the conference, as it is a treatment for extremely rare diseases. This means that efforts need to be made to prevent the so-called “diagnostic odyssey” of the patients.

"Publicity about the disease is the most needed, and we believe that we can raise awareness about the disease through symposiums at the society level,” said Professor Jeong, “I think that the introduction of genetic testing will further increase diagnosis.”

"Since NGS is performed in most university hospitals, the number of tests is increasing in line with the awareness of the disease," he added, "There are problems in FMF diagnosis in adults, so we need to raise awareness step by step, such as by promoting it to internal medicine specialists."