title: Muckle-Wells syndrome effectively treated with canakinumab: is the recommended dosing schedule mandatory?
abstract: Cryopyrin-associated periodic fever syndrome (CAPS) is a rare inherited disease due to mutations in the NLRP3 (also called CIAS1) gene on chromosome 1q44 resulting in overproduction of interleukin-1. CAPS comprises three clinically overlapping disorders including Muckle-Wells syndrome. We report on two half-siblings with Muckle-Wells syndrome who were successfully treated with the interleukin-1 beta antibody canakinumab. Despite reduced dosing and longer treatment intervals compared to the recommended dosing schedule (e.g. 150 mg every 8 weeks), the efficacy and tolerability of canakinumab was impressive in both patients. The pharmacologic properties of canakinumab are reviewed and the clinical and economical aspects highlighted. We show that with individualized 'reflare-guided' administrations of canakinumab overall costs could hypothetically be reduced by 50% (approx. USD 60,000/patient/year) and therefore could have a major impact on treatment costs.
authors.affiliation: Department of Dermatology, University Hospital Basel, Basel, Switzerland. muellersim@uhbs.ch
authors.forename: Simon M
authors.initials: SM
authors.lastname: Mueller
authors.forename: Peter
authors.initials: P
authors.lastname: Itin
authors.forename: Peter
authors.initials: P
authors.lastname: Haeusermann
mesh_terms: D000328:Adult; D000911:Antibodies, Monoclonal / Q000008:administration & dosage* / Q000627:therapeutic use; D061067:Antibodies, Monoclonal, Humanized; D002352:Carrier Proteins / Q000235:genetics; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D006801:Humans; D053583:Interleukin-1beta / Q000037:antagonists & inhibitors*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D012008:Recurrence; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D002352:Carrier Proteins; D053583:Interleukin-1beta; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; C541220:canakinumab