A drug to treat a rare, inherited disease that causes rash, fever, chills and joint pain in patients when they are exposed to cold temperatures has been approved by the U.S. Food and Drug Administration (FDA). The therapy, ARCALYST™ (rilonacept), marketed by Regeneron Pharmaceuticals, is based on a discovery by Hal Hoffman, M.D., associate professor of medicine at UC San Diego School of Medicine.
ARCALYST has received marketing approval for the treatment Cryopyrin-Associated Periodic Syndromes (CAPS), including Familial Cold Auto-inflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS) in adults and children 12 and older. CAPS is a group of rare, inherited, auto-inflammatory conditions characterized by life-long, recurrent symptoms of rash, fever and chills, joint pain, eye pain and fatigue. Symptoms can be triggered at any time by exposure to cooling temperatures, stress or exercise.
FCAS is an “orphan” hereditary disease that affects only about 300 people in the United States, 90 percent of them tracing their ancestry to a single person who came to America in the 1600s. Hoffman’s team first identified the genetic basis of the disease: a mutation that causes alterations in the protein they named cryopyrin – which means “icy fire” – because cold triggers fever in patients.
“This is a perfect example of research that was bedside to bench…and back,” said Hoffman, who has studied FCAS by drawing blood samples at different family reunions held through the United States and interviewing hundreds of patients across the country about their symptoms. “The approval of this drug represents a major advance in the treatment of CAPS patients. I hope it will bring increased awareness of this rare disease, which is frequently misdiagnosed.”
Cryopyrin regulates the release of interleukin-1, an important mediator of fever and systemic inflammation during the body’s initial immune response. Researchers found that alterations in cryopyrin lead to over-production of Il-1, which is inhibited by ARCALYST.
In clinical studies at 20 sites including UC San Diego, patients treated with the drug experienced greater improvement in overall symptoms than patients treated with a placebo. Regeneron expects to launch ARCALYST, its first commercial product, by the end of March. It is the only therapy currently approved for patients with CAPS.
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