Long term management of patients with cryopyrin-associated periodic syndromes (CAPS): Focus on rilonacept (IL-1 Trap)

Biologics: Targets and Therapy

Volumn 2, Issue 4, 2008, Pages 733-742

  Church, Leigh D ^a   Savic, Sinisa ^b   McDermott, Michael F ^b  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Cryopyrin associated periodic syndromes; Interleukin 1; Rilonacept; Therapy

Indexed keywords

EID: 75749147108     PISSN: 11775475     EISSN: 11775491     Source Type: Journal    
DOI: 10.2147/btt.s3167     Document Type: Review

References (55)

1. Aganna E, Martinon F, Hawkins PN, et al. 2002. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum, 46:2445-52.
2. Agostini L, Martinon F, Burns K, et al. 2004. NALP3 forms an IL-l beta-Processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity, 20:319-25.
3. Aksentijevich I, Nowak M, Mallah M, et al. 2002. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum, 46:3340-8.
4. Alten R, Gram H, Joosten LA, et al. 2008. The human anti-IL-1beta monoclonal antibody ACZ885 is effective in joint inflammation models in mice and in a proof-of-concept study in patients with rheumatoid arthritis. Arthritis Res Ther, 10:R67.
5. Cassel SL, Eisenbarth SC, Iyer SS, et al. 2008. The Nalp3 inflammasome is essential for the development of silicosis. Proc Natl Acad Sci U S A, 105:9035-40.
6. Church LD, Cook GP, McDermott MF. 2008. Primer: inflammasomes and interleukin 1beta in inflammatory disorders. Nat Clin Pract Rheumatol, 4:34-42.
7. Clark W, Jobanputra P, Barton P, et al. 2004. The clinical and costeffectiveness of anakinra for the treatment of rheumatoid arthritis in adults: a systematic review and economic analysis. Health Technol Assess, 8:iii-x, 1.
8. Cuisset L, Drenth JP, Berthelot JM, et al. 1999. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet, 65:1054-9.
9. Dode C, Cuisset L, Delpech M, et al. 2003. TNFRSF1A-associated periodic syndrome (TRAPS), Muckle-Wells syndrome (MWS) and renal amyloidosis. J Nephrol, 16:435-7. Dode C, Hazenberg BP, Pecheux C, et al. 2002a, Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant, 17:1212-7.
10. Dode C, Le Du N, Cuisset L, et al. 2002b. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet, 70:1498-506.
11. Dollfus H, Hafner R, Hofmann HM, et al. 2000. Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood. Arch Ophthalmol, 118:1386-92.
12. Economides AN, Carpenter LR, Rudge JS, et al. 2003. Cytokine traps: multicomponent, high-affinity blockers of cytokine action. Nat Med, 9:47-52.
13. Eisenbarth SC, Colegio OR, O'Connor W, et al. 2008. Crucial role for the Nalp3 inflammasome in the immunostimulatory properties of aluminium adjuvants. Nature, 453:1122-6. Farasat S, Aksentijevich I, Toro JR. 2008, Autoinflammatory diseases: clinical and genetic advances. Arch Dermatol, 144:392-402.
14. Feldmann J, Prieur AM, Quartier P, et al. 2002. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet, 71:198-203.
15. Goldbach-Mansky R, Dailey NJ, Canna SW, et al. 2006. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med, 355:581-92.
16. Goldbach-Mansky R, Shroff SD, Wilson M, et al. 2008. A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 trap) in patients with familial cold autoinflammatory syndrome. Arthritis Rheum, 58:2432-42.
17. Haas N, Kuster W, Zuberbier T, et al. 2004. Muckle-Wells syndrome: clinical and histological skin findings compatible with cold air urticaria in a large kindred. Br J Dermatol, 151:99-104.
18. Hashkes P, Lovell D, Giannini E, et al. 2008. Rilonacept (IL-1 Trap) for treatment of colchicine resistant Familial Mediterranean Fever: A randomized, multicenter double-blinded, alternating treatment (N of 1) trial. Clin Exp Rheumatol, 26:193:N18.
19. Hashkes PJ, Lovell DJ. 1997. Recognition of infantile-onset multisystem inflammatory disease as a unique entity. J Pediatr, 130:513-5.
20. Hawkins PN, Bybee A, Aganna E, et al. 2004a. Response to anakinra in a de novo case of neonatal-onset multisystem inflammatory disease. Arthritis Rheum, 50:2708-9.
21. Hawkins PN, Lachmann HJ, Aganna E, et al. 2004b. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum, 50:607-12.
22. Hawkins PN, Lachmann HJ, McDermott MF. 2003. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N Engl J Med, 348:2583-4.
23. Hoffman HM, Mueller JL, Broide DH, et al. 2001. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet, 29:301-5.
24. Hoffman HM, Rosengren S, Boyle DL, et al. 2004. Prevention of coldassociated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet, 364:1779-85.
25. Hoffman HM, Throne ML, Amar NJ, et al. 2008. Efficacy and safety of rilonacept (interleukin-1 trap) in patients with cryopyrin-associated periodic syndromes: Results from two sequential placebo-controlled studies. Arthritis Rheum, 58:2443-52.
26. Hoffman HM, Wright FA, Broide DH, et al. 2000. Identification of a locus on chromosome 1q44 for familial cold urticaria. Am J Hum Genet, 66:1693-8.
27. Kaufman RA, Lovell DJ. 1986. Infantile-onset multisystem inflammatory disease: radiologic findings. Radiology, 160:741-6.
28. Kile RL, Rusk HA. 1940. A case of cold urticaria with an unusual family history. JAMA, 114:1067-8.
29. Kuemmerle-Deschner JB, Tzaribachev N, Hausmann S, et al. 2008. Longlasting response to ACZ885 (a new human IgG1 anti-IL-1 beta monoclonal antibody) in patients with Muckle-Wells Syndrome (MWS). Clin Exp Rheumatol, 26:180:G2.
30. Lachmann H, Jung T, Felix S, et al. 2008. Treatment of cryopyrin associated periodic fever syndrome with a fully human anti-IL-1beta monoclonal antibody (ACZ885): results from a subcutaneous administration study. Clin Exp Rheumatol, 26:181:G3.
31. Lachmann HJ, Jung T, Bobadilla M, et al. 2006. Treatment of Muckle Wells syndrome with a fully human anti-IL-1beta monoclonal antibody (ACZ885)-Initial results from a proof of concept study. Ann Rheum Dis, 65(Suppl II):76.
32. Leslie KS, Lachmann HJ, Bruning E, et al. 2006. Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol, 142:1591-7.
33. Lorber J. 1973. Syndrome for diagnosis: dwarfing, persistently open fontanelle; recurrent meningitis; recurrent subdural effusions with temporary alternate-sided hemiplegia; high-tone deafness; visual defect with pseudopapilloedema; slowing intellectual development; recurrent acute polyarthritis; erythema marginatum, splenomegaly and iron-resistant hypochromic anaemia. Proc R Soc Med, 66:1070-1.
34. Lovell D, Giannini E, Kimura Y, et al. 2006a. Preliminary evidence for bioactivity of IL-1 trap (rilonacept), a long acting IL-1 inhibitor, in systemic juvenile idiopathic arthritis. Ann Rheum Dis, 65(Suppl II):693.
35. Lovell DJ, Giannini EH, Kimura Y, et al. 2006b. Preliminary evidence for bioactivity of IL-1 trap (Rilonacept), a long acting IL-1 inhibitor, in systemic juvenile idiopathic arthritis (SJIA). Arthritis Rheum, 54:S325-S6.
36. Maksimovic L, Stirnemann J, Caux F, et al. 2008. New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology (Oxford), 47:309-10.
37. Martinon F, Burns K, Tschopp J. 2002. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell, 10:417-26.
38. Martinon F, Petrilli V, Mayor A, et al. 2006. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature, 440:237-41.
39. McDermott MF, Aksentijevich I. 2002. The autoinflammatory syndromes. Curr Opin Allergy Clin Immunol, 2:511-6.
40. Mirault T, Launay D, Cuisset L, et al. 2006. Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum, 54:1697-700.
41. Muckle T, Wells M. 1962. Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med, 31:235-48.
42. Muruve DA, Petrilli V, Zaiss AK, et al. 2008. The inflammasome recognizes cytosolic microbial and host DNA and triggers an innate immune response. Nature, 452:103-7.
43. Neven B, Prieur AM, Dit Maire PQ. 2008. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol, 4:481-9.
44. O'Connell SM, O'Regan GM, Bolger T, et al. 2007. Response to IL-1-receptor antagonist in a child with familial cold autoinflammatory syndrome. Pediatr Dermatol, 24:85-9.
45. Petrilli V, Papin S, Dostert C, et al. 2007. Activation of the NALP3 inflammasome is triggered by low intracellular potassium concentration. Cell Death Differ, 14:1583-9.
46. Prieur AM, Griscelli C, Lampert F, et al. 1987. A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl, 66:57-68.
47. Radin A, Terkeltaub R, Schumacher H, et al. 2008. Placebo-controlled pilot study of rilonacept (IL-1 Trap), a long acting IL-1 inhibitor, in refractory chronic active gouty arthritis. Clin Exp Rheum, 26:181:G5.
48. Ratner M. 2008. IL-1 trap go-ahead. Nat Biotechnol, 26:485.
49. Rosengren S, Mueller JL, Anderson JP, et al. 2007. Monocytes from familial cold autoinflammatory syndrome patients are activated by mild hypothermia. J Allergy Clin Immunol, 119:991-6.
50. Ross JB, Finlayson LA, Klotz PJ, et al. 2008. Use of anakinra (Kineret) in the treatment of familial cold autoinflammatory syndrome with a 16-month follow-up. J Cutan Med Surg, 12:8-16. Rynne M, Maclean C, Bybee A, et al. 2006, Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis, 65:533-4.
51. Taylor PC. 2003. Anti-cytokines and cytokines in the treatment of rheumatoid arthritis. Curr Pharm Des, 9:1095-106.
52. Terkeltaub R, Schumacher HR, Sundy J, et al. 2007. Placebo-controlled pilot study of rilonacept (IL-1 trap), a long acting IL-1 inhibitor, in refractory chronic active gouty arthritis. Arthritis Rheum, 56:4231-2.
53. Ting JP, Kastner DL, Hoffman HM. 2006. CATERPILLERs, pyrin and hereditary immunological disorders. Nat Rev Immunol, 6:183-95.
54. Torbiak RP, Dent PB, Cockshott WP. 1989. NOMID-a neonatal syndrome of multisystem inflammation. Skeletal Radiol, 18:359-64.
55. Touitou I, Savic S, Mathews R, et al. 2008. Fifth International Congress on Familial Mediterranean Fever and Systemic Autoinflammatory Diseases. Exp Rev Clin Immunol, 4:425-8.