Evaluation of two years of treatment with enzyme replacement therapy in type 1 Gaucher disease patients of São Paulo State, Brazil;Avaliação de dois anos de tratamento da doença de Gaucher tipo 1 com terapia de reposição enzimática em pacientes do estado de São Paulo, Brasil

Revista Brasileira de Hematologia e Hemoterapia

Volumn 30, Issue 3, 2008, Pages 193-201

  Sobreira, Elisa A P ^a,c   Bruniera, Paula ^b  

^a Gerente médica da Genzyme do Brasil Ltda

^b FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

^c NONE   (Brazil)

Author keywords

Alglucerase; Gaucher's Disease; Glucosylceramide; Imiglucerase; Treatment efficacy

Indexed keywords

EID: 54949128673     PISSN: 15168484     EISSN: None     Source Type: Journal    
DOI: 10.1590/S1516-84842008000300007     Document Type: Review

References (56)

1. Fletcher J. Screening for lysosomal storage disorders - a clinical perspective. J Inherit Metab Dis. 2006;29(2-3):405-8.
2. Aerts JM, Hollak C, Boot R, Groener A. Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Philos Trans R Soc Lond B Biol Sci. 2003;358(1433):905-14
3. Ginzburg L, Kacher Y, Futerman AH. The pathogenesis of glycosphingolipid storage disorders. Semin Cell Dev Biol. 2004;15(4):417-31.
4. Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005;129(2):178-88.
5. Beutler E, Grabowski G. Gaucher disease. In: Scriver C, Beaudet A, Sly W et al., eds. Metabolic and Molecular Bases of Inherited Disease. New York: McGraw, 2001:3635-8.
6. Zhao H, Keddache M, Bailey L, Arnold G, Grabowski G. Gaucher's disease: identification of novel mutant alleles and genotype-phenotype relationships. Clin Gene.t 2003;64(1):57-64.
7. Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004;65(2):77-86.
8. Grabowski GA. Gaucher disease: lessons from a decade of therapy. J Pediatr. 2004;144(5 Suppl):S15-9.
9. Jeyakumar M, Butters TD, Dwek RA, Platt FM. Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathol Appl Neurobiol. 2002;28(5):343-57.
10. Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis. 2001;24(Suppl 2):106-21; discussion 87-8.
11. Pastores G. Gaucher disease. Gene Reviews 2005; Disponível online em: http://www.genetests.org.
12. Grabowski GA. Recent clinical progress in Gaucher disease. Curr Opin Pediatr. 2005;17(4):519-24.
13. Incerti C. Gaucher disease: an overview. Semin Hematol 1995;32(3 Suppl 1):3-9.
14. Ludwig J. Current methods of autopsy practice. Philadelphia: WB Saunders, 1979.
15. Gielchinsky Y, Elstein D, Hadas-Halpern I, Lahad A, Abrahamov A, Zimran A. Is there a correlation between degree of splenomegaly, symptoms and hypersplenism? A study of 218 patients with Gaucher disease. Br J Haematol. 1999;106(3):812-6.
16. Kauli R, Zaizov R, Lazar L, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and/or enzyme replacement therapy. Isr Med Assoc J. 2000;2(2):158-63.
17. Bembi B, Ciana G, Mengel E, Terk MR, Martini C, Wenstrup RJ. Bone complications in children with Gaucher disease. Br J Radiol. 2002;75 Suppl 1:A37-44.
18. Goker-Alpan O, Schiffmann R, Park JK, Stubblefield BK, Tayebi N, Sidransky E. Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr. 2003;143(2):273-6.
19. Mignot C, Doummar D, Maire I, De Villemeur TB. Type 2 Gaucher disease: 15 new cases and review of the literature. Brain Dev. 2006;28(1):39-48.
20. Ron I, Horowitz M. ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet. 2005;14(16):2387-98.
21. Grabowski GA, Hopkin RJ. Enzyme therapy for lysosomal storage disease: principles, practice, and prospects. Annu Rev Genomics Hum Genet. 2003;4:403-36.
22. Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis. 2004;27(3):385-410.
23. Gieselmann V. Reversibility of cellular and organ pathology in enzyme replacement trials in animal models of lysosomal storage diseases. Acta Paediatr Suppl. 95(451):93-9.
24. Futerman AH, Sussman JL, Horowitz M, Silman I, Zimran A. New directions in the treatment of Gaucher disease. Trends Pharmacol Sci. 2004;25(3):147-51.
25. Pensiero S, Accardo A, Pittis MG, Ciana G, Bembi B, Perissutti P. Saccade testing in the diagnosis and treatment of type 3 Gaucher disease. Neurology. 2005;65(11):1837.
26. Erikson A, Forsberg H, Nilsson M, Astrom M, Mansson JE. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr. 2006;95(3):312-7.
27. Cox TM. Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl. 2005;94(447):69-75; discussion 57.
28. Pastores GM, Barnett NL, Kolodny EH. An open-label, non-comparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment. Clin Ther. 2005;27(8):1215-27.
29. Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. Am J Hematol. 2005;80(3):223-9.
30. Gaucher Registry: https://www.lsdregistry.net/gaucherregistry/hcp/ understd/greg_hc_u_regoverview.asp, 2006.
31. Michelin K, Wajner A, de Souza FT et al. Application of a comprehensive protocol for the identification of Gaucher disease in Brazil. Am J Med Genet A. 2005;136(1):58-62.
32. Rozenberg R, Fox DC, Sobreira E, Pereira LV. Detection of 12 new mutations in Gaucher disease Brazilian patients. Blood Cells Mol Dis. 2006;37(3):204-9.
33. Blue Cross and Blue Shield of Massachusetts Medical Policy. Alglucerase (Ceredase and Cerezyme) for Gaucher Disease. Boston (MA)1997.p12.
34. National Institutes of Health Technology Assessment Conference on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.
35. Secretaria de Assistência à Saúde. Portaria no 449, de 8 de julho de 2002. Diário Oficial da Imprensa Nacional. República Federativa do Brasil, Brasília, DF. No 130, seção 1, 9 de julho de 2002.
36. Martins A, Lobo C, Sobreira E, et al. Tratamento da doença de Gaucher: um consenso brasileiro. Rev Bras Hematol Hemoter. 2003;25:89-95.
37. Morcilo A, Lemos-Marini S. SISCRES - Crescimento e Desenvolvimento: http://siscres.com.br, 2002.
38. Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4-14.
39. Sobreira E, Pires RF, Cizmarik M, Grabowski GA. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: A comparison between Brazil and the rest of the world. Mol Genet Metab. 2007;90(1):81-6.
40. Weinreb NJ, Charrow J, Anderson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113(2):112-9.
41. Kaplan P, Anderson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med. 2006;160(6):603-8.
42. Beutler E. Enzyme replacement in Gaucher disease. PLoS Med. 2004;1(2):e21.
43. Beutler E. Lysosomal storage diseases: natural history and ethical and economic aspects. Mol Genet Metab. 2006;88(3):208-15.
44. Charrow J, Anderson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004; 144 (1):112-20.
45. Anderson HC, Charrow J, Kaplan P, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genet Med. 2005;7(2):105-10.
46. Zimran A, Elstein D, Kannai R et al. Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment. Am J Med. 1994;97(1):3-13.
47. Cohen IJ, Katz K, Kornreich L, Horev G, Frish A, Zaizov R. Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease. Blood Cells Mol Dis. 1998;24(3):296-302.
48. Beutler E. Dosage-response in the treatment of Gaucher disease by enzyme replacement therapy. Blood Cells Mol Dis. 2000;26(4):303-6.
49. de Fost M, Hollak CE, Groener JE et al. Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels: a 2-center retrospective analysis. Blood. 2006;108(3):830-5.
50. Zimran A, Elstein D, Beutler E. Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood. 2006;108(3):802-3.
51. Grabowski GA, Andria G, Baldellou A et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2004;163(2):58-66.
52. Vom Dahl S, Poll L, Di Rocco M et al. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients. Curr Med Res Opin. 2006;22(6):1045-64.
53. Baldellou A, Andria G, Campbell PE et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr. 2004;163(2):67-75.
54. Kaplan P, Mazur A, Manor O et al. Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr. 1996;129(1):149-53.
55. Giraldo P, Solano V, Perez-Calvo JI, Giralt M, Rubio-Felix D. Quality of life related to type 1 Gaucher disease: Spanish experience. Qual Life Res 2005;14(2):453-62.
56. Mankin HJ, Trahan CA, Barnett NA, Laughead J, Bove CM, Pastores GM. A questionnaire study for 128 patients with Gaucher disease. Clin Genet 2006;69(3):209-17.