Muckle-Wells
syndrome is a rare, inherited disease caused by mutations in a gene, leading to
elevated levels of IL-1. Symptoms of the disorder range from itching skin rashes
and daily fevers to conjunctivitis and swollen joints. But because Muckle-Wells
is so well-defined, and driven by a single defect, it seemed ideal for a proof-of-concept
study with ACZ885. Yet only a few hundred people worldwide
are believed to suffer from Muckle- Wells syndrome, so recruiting patients was
a major challenge. Dr. Wright and Viennabased NIBR colleague Thomas Jung, M.D.,
managed to track down a European physician eager to try the new medicine.
INSTANT RESPONSE For almost two decades, Professor
Philip Hawkins at London’s Royal Free and University College Medical School has
labored in the field of amyloidosis, a disorder where waxy protein fibers become
lodged in the liver, kidneys and other organs. Amyloidosis is a potentially fatal
complication of Muckle- Wells syndrome, and Professor Hawkins eventually became
a world authority on both disorders. His lab was a
leader in the race to track down the gene which in its mutated, defective form
causes Muckle-Wells. After reading publications by Professor Hawkins, NIBR researchers
approached him about a possible collaboration. He agreed, and the proof-of-concept
study for ACZ885 began in early 2005. “We gave the
anti-IL-1 beta antibody to four patients, all of whom responded instantly to the
first injection,” Professor Hawkins says. ”And their median duration of response
was something like six months. | 
