An overview of enzyme replacement therapy for lysosomal storage diseases

Online Journal of Issues in Nursing

Volumn 13, Issue 1, 2008, Pages

  Bailey, Laurie ^a  

^a NONE

Author keywords

Enzyme replacement therapy; Fabry disease; Gaucher disease; Hunter syndrome; Hurler syndrome; Hurler Scheie syndrome; Lysosomal storage disease; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Pompe disease; Scheie syndrome

Indexed keywords

EID: 45349094108     PISSN: None     EISSN: 10913734     Source Type: Journal    
DOI: None     Document Type: Review

References (47)

1. Amalfitano, A., Bengur, A. R., Morse, R. P., Majure, J. M., Case, L. E., Veerling, D. L., et al. (2001). Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genetics in Medicine, 3(2), 132-138.
2. Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M., et al. (2007). Agalsidase-beta therapy for advanced Fabry disease: A randomized trial. Annals of Internal Medicine, 146(2), 77-86.
3. Beutler, E. (2006). Lysosomal storage diseases: Natural history and ethical and economic aspects. Molecular Genetics and Metabolism, 88(3), 208-215.
4. Beutler, E., & Grabowski, G. A. (2001). Gaucher disease. In C. R. Scriver, A. L. Beaudet & W. S. Sly (Eds.), The Metabolic and Molecular Bases of Inherited Diseases (8th ed., pp. 3635-3668). New York: McGraw-Hill.
5. Brady, R. O. (2006). Enzyme replacement for lysosomal diseases. Annual Review of Medicine, 57, 283-296.
6. Brady, R. O., Murray, G. J., Moore, D. F., & Schiffmann, R. (2001). Enzyme replacement therapy in Fabry disease. Journal of Inherited Metabolic Diseases, 24 Suppl 2, 18-24; discussion 11-12.
7. Charrow, J., Dulisse, B., Grabowski, G. A., & Weinreb, N. J. (2007). The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clinical Genetics, 71(3), 205-211.
8. Connock, M., Burls, A., Frew, E., Fry-Smith, A., Juarez-Garcia, A., McCabe, C., et al. (2006). The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review. Health Technology Assessment, 10(24), iii-iv, ix-136.
9. Desnick, R. J., & Brady, R. O. (2004). Fabry disease in childhood. Journal of Pediatrics, 144(5 Suppl), S20-26.
10. Desnick, R. J., Ioannou, Y., & Eng, C. M. (2001). Galactosidase A Deficiency: Fabry Disease. In C. R. Scriver, A. L. Beaudet, W. S. Sly & e. al (Eds.), The Metabolic & Molecular Bases of Inherited Disease (pp. 3733-3774). New York: McGraw-Hill.
11. Eng, C. M., Fletcher, J., Wilcox, W. R., Waldek, S., Scott, C. R., Sillence, D. O., et al. (2007). Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Diseases, 30(2), 184-192.
12. Eng, C. M., Germain, D. P., Banikazemi, M., Warnock, D. G., Wanner, C., Hopkin, R. J., et al. (2006). Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genetics in Medicine, 8(9), 539-548.
13. Gassas, A., Sung, L., Doyle, J. J., Clarke, J. T., & Saunders, E. F. (2003). Life-threatening pulmonary hemorrhages post bone marrow transplantation in Hurler syndrome. Report of three cases and review of the literature. Bone Marrow Transplant, 32(2), 213-215.
14. Grabowski, G. A., Kolodny, E. H., Weinreb, N. J., Rosenbloom, B. E., Prakash-Cheng, A., Kaplan, P., et al. (2006). Gaucher disease: Phenotypic and genetic variation, Chapter 146.1. In C. R. Scriver, A. L. Beaudet, W. S. Sly & D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease (9th ed., pp. Available: http://genetics.accessmedicine.com). New York: McGraw-Hill.
15. Guffon, N., Souillet, G., Maire, I., Straczek, J., & Guibaud, P. (1998). Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. Journal of Pediatrics, 133(1), 119-125.
16. Hagemans, M. L., Winkel, L. P., Van Doorn, P. A., Hop, W. J., Loonen, M. C., Reuser, A. J., et al. (2005). Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain, 128(Pt 3), 671-677.
17. Hirschhorn, R., & Reuser, A. J. (2001). Glycogen Storage Disease Type II: Acid Alpha-Glucosidase (acid mallase) Deficiency. In C. R. Scriver, A. Beaudet, W. S. Sly & D. Valle (Eds.), The Metabolic & Molecular Bases of Inherited Diseases (pp. 3389-3420). New York: McGraw-Hill.
18. Hoffmann, B., & Keshav, S. (2007). Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment.Acta Paediatrica, (Suppl) 96(455), 84-86.
19. Hughes, D. A., Ramaswami, U., Elliott, P. M., Deegan, P., Lee, P., Waldek, S., et al. (2005). Guidelines for the diagnosis and management of Anderson-Fabry disease. Retrieved January 6, 2008 from: www.dh.gov.uk/en/ Publicationsandstatistics/Publications/PublicationsPolicyAndGuidance/DH_4118404
20. Kakkis, E. D., Muenzer, J., Tiller, G. E., Waber, L., Belmont, J., Passage, M., et al. (2001). Enzyme-replacement therapy in mucopolysaccharidosis I. New England Journal of Medicine, 344(3), 182-188.
21. Kikuchi, T., Yang, H. W., Pennybacker, M., Ichihara, N., Mizutani, M., Van Hove, J. L., et al. (1998). Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. Journal of Clinical Investigation, 101(4), 827-833.
22. Kishnani, P. S., Corzo, D., Nicolino, M., Byrne, B., Mandel, H., Hwu, W. L., et al. (2007). Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology, 68(2), 99-109.
23. Kishnani, P. S., Hwu, W. L., Mandel, H., Nicolino, M., Yong, F., & Corzo, D. (2006). A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. Journal of Pediatrics, 148(5), 671-676.
24. Kishnani, P. S., Nicolino, M., Voit, T., Rogers, R. C., Tsai, A. C., Waterson, J., et al. (2006). Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. Journal of Pediatrics, 149(1), 89-97.
25. Kornfeld, S. (1992). Structure and function of the mannose 6-phosphate/insulinlike growth factor II receptors. Annual Review of Biochemistry, 61, 307-330.
26. Krivit, W. (2002). Stem cell bone marrow transplantation in patients with metabolic storage diseases. Advances in Pediatrics, 49, 359-378.
27. MacDermot, K. D., Holmes, A., & Miners, A. H. (2001). Natural history of Fabry disease in affected males and obligate carrier females. Journal of Inherited Metabolic Diseases, 24 Suppl 2, 13-14; discussion 11-12.
28. Martiniuk, F., Chen, A., Mack, A., Arvanitopoulos, E., Chen, Y., Rom, W. N., et al. (1998). Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease. American Journal of Medical Genetics, 79(1), 69-72.
29. Mehta, A., Ricci, R., Widmer, U., Dehout, F., Garcia de Lorenzo, A., Kampmann, C., et al. (2004). Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. European Journal of Clinical Investigation, 34(3), 236-242.
30. Meikle, P. J., Hopwood, J. J., Clague, A. E., & Carey, W. F. (1999). Prevalence of lysosomal storage disorders. JAMA, 281(3), 249-254.
31. Moon, J. C., Sachdev, B., Elkington, A. G., McKenna, W. J., Mehta, A., Pennell, D. J., et al. (2003). Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. European Heart Journal, 24(23), 2151-2155.
32. Pastores, G. M., Weinreb, N. J., Aerts, H., Andria, G., Cox, T. M., Giralt, M., et al. (2004). Therapeutic goals in the treatment of Gaucher disease. Seminars in Hematology, 41(4 Suppl 5), 4-14.
33. Peters, C., Shapiro, E. G., Anderson, J., Henslee-Downey, P. J., Klemperer, M. R., Cowan, M. J., et al. (1998). Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood, 91(7), 2601-2608.
34. Ramaswami, U., Wendt, S., Pintos-Morell, G., Parini, R., Whybra, C., Leon Leal, J. A., et al. (2007). Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatrica, 96 (1), 122-127.
35. Ramaswami, U., Whybra, C., Parini, R., Pintos-Morell, G., Mehta, A., Sunder-Plassmann, G., et al. (2006). Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatrica, 95(1), 86-92.
36. Reuser, A. J., Van Den Hout, H., Bijvoet, A. G., Kroos, M. A., Verbeet, M. P., & Van Der Ploeg, A. T. (2002). Enzyme therapy for Pompe disease: from science to industrial enterprise. European Journal of Pediatrics 161 Suppl 1, S106-111.
37. Ries, M., Clarke, J. T., Whybra, C., Timmons, M., Robinson, C., Schlaggar, B. L., et al. (2006). Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics, 118(3), 924-932.
38. Ries, M., Gupta, S., Moore, D. F., Sachdev, V., Quirk, J. M., Murray, G. J., et al. (2005). Pediatric Fabry disease. Pediatrics, 115(3), e344-355.
39. Ries, M., Ramaswami, U., Parini, R., Lindblad, B., Whybra, C., Willers, I., et al. (2003). The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. European Journal of Pediatrics, 162(11), 767-772.
40. Sifuentes, M., Doroshow, R., Hoft, R., Mason, G., Walot, I., Diament, M., et al. (2007). A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Molecular Genetics and Metabolism, 90(2), 171-180.
41. Thurberg, B. L., Lynch Maloney, C., Vaccaro, C., Afonso, K., Tsai, A. C., Bossen, E., et al. (2006). Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease.Laboratory Investigation, 86(12), 1208-1220.
42. Van den Hout, J. M., Kamphoven, J. H., Winkel, L. P., Arts, W. F., De Klerk, J. B., Loonen, M. C., et al. (2004). Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics,113(5), e448-457.
43. Vellodi, A., Young, E. P., Cooper, A., Wraith, J. E., Winchester, B., Meaney, C., et al. (1997). Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Archives of Disease in Childhood, 76(2), 92-99.
44. Wenstrup, R. J., Kacena, K. A., Kaplan, P., Pastores, G. M., Prakash-Cheng, A., Zimran, A., et al. (2007). Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease. Journal of Bone and Mineral Research, 22(1), 119-126.
45. Winkel, L. P., Hagemans, M. L., van Doorn, P. A., Loonen, M. C., Hop, W. J., Reuser, A. J., et al. (2005). The natural course of non-classic Pompe's disease; a review of 225 published cases. Journal of Neurology, 252(8), 875-884.
46. Wraith, J. E. (2006). Limitations of enzyme replacement therapy: current and future. Journal of Inherited Metabolic Diseases, 29(2-3), 442-447.
47. Wraith, J. E., Clarke, L. A., Beck, M., Kolodny, E. H., Pastores, G. M., Muenzer, J., et al. (2004). Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). Journal of Pediatrics, 144(5), 581-588.