title: Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency.
abstract: OBJECTIVE
  To describe the efficacy and safety of IL-1-targeting drugs, anakinra and canakinumab, in patients with mevalonate kinase deficiency (MKD).
  
  
  METHODS
  A questionnaire was sent to French paediatric and adult rheumatologists to retrospectively collect information on disease activity before and after treatment with IL-1 antagonists from genetically confirmed MKD patients. We assessed the frequency of crises and their intensity using a 12-item clinical score built for the purpose of the study.
  
  
  RESULTS
  Eleven patients were included. Anti-IL-1-targeting drugs were used continuously in all but one patient who received anakinra on demand. Daily anakinra (nine patients) or canakinumab injections every 4-8 weeks (six patients, in four cases following anakinra treatment) were associated with complete remission in four cases and partial remission in seven. The median score during MKD attacks decreased from 7/12 before treatment to 3/12 after anakinra and 1/12 after canakinumab. The number of days with fever during attacks decreased from 5 before treatment to 3 after anakinra and 2 after canakinumab. Marked decrease of C-reactive protein and serum amyloid A protein were recorded. Side effects were mild or moderate; they consisted of local pain and inflammation at injection site, infections and hepatic cytolysis.
  
  
  CONCLUSIONS
  Continuous IL-1 blockade brings substantial benefit to MKD patients. Controlled trials are necessary to further assess the clinical benefit and treatment modalities in these patients.
authors: Department of Pediatrics and Pediatric Rheumatology, National Referral Centre of Auto-inflammatory Diseases, CEREMAI, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, University of Paris Sud, Le Kremlin Bicêtre, , France.
authors: Caroline
authors: C
authors: Galeotti
authors: Ulrich
authors: U
authors: Meinzer
authors: Pierre
authors: P
authors: Quartier
authors: Linda
authors: L
authors: Rossi-Semerano
authors: Brigitte
authors: B
authors: Bader-Meunier
authors: Pascal
authors: P
authors: Pillet
authors: Isabelle
authors: I
authors: Koné-Paut
mesh_terms: D000293:Adolescent; D000328:Adult; D000911:Antibodies, Monoclonal / Q000627:therapeutic use*; D061067:Antibodies, Monoclonal, Humanized; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007155:Immunologic Factors / Q000627:therapeutic use*; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D053583:Interleukin-1beta / Q000037:antagonists & inhibitors*; D008297:Male; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy*; D016896:Treatment Outcome
chemical_list: D000911:Antibodies, Monoclonal; D061067:Antibodies, Monoclonal, Humanized; D007155:Immunologic Factors; D053590:Interleukin 1 Receptor Antagonist Protein; D053583:Interleukin-1beta; C541220:canakinumab