Therapy for lysosomal storage disorders

IUBMB Life

Volumn 62, Issue 1, 2010, Pages 33-40

  Beck, Michael ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Chaperones; Gene therapy; Hematopoietic stem cell transplantation; Imino sugar; Lysosomal storage disorder; Substrate reduction

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALGLUCERASE; IMIGLUCERASE; PROTEIN CLN2; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

DRUG EFFICACY; DRUG TOLERABILITY; ENZYME REPLACEMENT; EX VIVO GENE TRANSFER; FABRY DISEASE; GAUCHER DISEASE; GENE THERAPY; GLYCOGEN STORAGE DISEASE TYPE 2; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; IN VIVO GENE TRANSFER; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; NONHUMAN; PATIENT CARE; REVIEW; STOP CODON; VIRAL GENE THERAPY; DRUG MANUFACTURE;

ENZYME REPLACEMENT THERAPY; GENE THERAPY; HUMANS; LYSOSOMAL STORAGE DISEASES; ORPHAN DRUG PRODUCTION;

EID: 77950586398     PISSN: 15216543     EISSN: 15216551     Source Type: Journal    
DOI: 10.1002/iub.284     Document Type: Review

References (61)

1. Ballabio, A. and Gieselmann, V. (2009) Lysosomal disorders: from storage to cellular damage. Biochim. Biophys. Acta 1793, 684-696.
2. Fratantoni, J. C., Hall, C. W., and Neufeld, E. F. (1968) Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science 162, 570-572.
3. Krivit, W. (2004) Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Semin. Immunopathol. 26, 119-132.
4. Peters, C. and Steward, C. G. (2003) Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant. 31, 229-239. (Pubitemid 36336225)
5. Staba, S. L., Escolar, M. L., Poe, M., Kim, Y., Martin, P. L., Szabolcs, P., Allison-Thacker, J., Wood, S., Wenger, D. A., Rubinstein, P., Hopwood, J. J., Krivit, W., and Kurtzberg, J. (2004) Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N. Engl. J. Med. 350, 1960-1969.
6. Krivit, W., Peters, C., and Shapiro, E. G. (1999) Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. Curr. Opin. Neurol. 12, 167-176.
7. Cartier, N. and Aubourg, P. (2008) Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. Curr. Opin. Mol. Ther. 10, 471-478.
8. Wynn, R. F., Mercer, J., Page, J., Carr, T. F., Jones, S., and Wraith, J. E. (2009) Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J. Pediatr. 154, 135-139.
9. Grigull, L., Beilken, A., Schrappe, M., Das, A., Luecke, T., Sander, A., Stanulla, M., Rehe, K., Sauer, M., Schmid, H., Welte, K., Lukacs, Z., Gal, A., and Sykora, K. W. (2005) Transplantation of allogeneic CD34-selected stem cells after fludarabine-based conditioning regimen for children with mucopolysaccharidosis 1H (M. Hurler). Bone Marrow Transplant. 35, 265-269. (Pubitemid 40268298)
10. Barton, N. W., Brady, R. O., Dambrosia, J. M., Di Bisceglie, A. M., Doppelt, S. H., Hill, S. C., Mankin, H. J., Murray, G. J., Parker, R. I., Argoff, C. E., R.P.G., and Yu, K. T. (1991) Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324, 1464-1470.
11. Weinreb, N. J. (2008) Imiglucerase and its use for the treatment of Gaucher's disease. Expert Opin. Pharmacother. 9, 1987-2000.
12. Davies, E. H., Erikson, A., Collin-Histed, T., Mengel, E., Tylki-Szymanska, A., and Vellodi, A. (2007) Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases. J. Inherit. Metab. Dis. 30, 935-942.
13. Prows, C. A., Sanchez, N., Daugherty, C., and Grabowski, G. A. (1997) Gaucher disease: enzyme therapy in the acute neuronopathic variant. Am. J. Med. Genet. 71, 16-21.
14. Aviezer, D., Brill-Almon, E., Shaaltiel, Y., Hashmueli, S., Bartfeld, D., Mizrachi, S., Liberman, Y., Freeman, A., Zimran, A., and Galun, E. (2009) A plant-derived recombinant human glucocerebrosidase enzyme - a preclinical and phase I investigation. PLoS One 4, e4792.
15. Brumshtein, B., Salinas, P., Peterson, B., Chan, V., Silman, I., Sussman, J. L., Savickas, P. J., Robinson, G. S., and Futerman, A. H. (2009) Characterization of gene-activated human acid-β-glucosidase: crystal structure, glycan composition and internalization into macrophages. Glycobiology, cwp 13. Published online on September 9, 2009.
16. Beck, M. (2009) Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin. Biol. Ther. 9, 255-261.
17. West, M., Nicholls, K., Mehta, A., Clarke, J. T. R., Steiner, R., Beck, M., Barshop, B. A., Rhead, W., Mensah, R., Ries, M., and Schiffmann, R. (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J. Am. Soc. Nephrol. 20, 1132-1139.
18. Banikazemi, M., Bultas, J., Waldek, S., Wilcox, W. R., Whitley, C. B., McDonald, M., Finkel, R., Packman, S., Bichet, D. G., Warnock, D. G., and Desnick, R. J. (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med. 146, 77-86.
19. Muenzer, J. (2004) The mucopolysaccharidoses: A heterogeneous group of disorders with variable pediatric presentations. J. Pediatr. 144, S27-S34.
20. Neufeld, E. F. and Muenzer, J. (2001) The mucopolysaccharidoses. In The Metabolic and Molecular Bases of Inherited Disease. (Scriver, C., Beaudet, A., Sly, W., and Valle, D., eds.). pp. 3421-3468, Mc-Graw-Hill, New York.
21. Clarke, L. A., Wraith, J. E., Beck, M., Kolodny, E. H., Pastores, G. M., Muenzer, J., Rapoport, D. M., Berger, K. I., Sidman, M., Kakkis, E. D., and Cox, G. F. (2009) Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 123, 229-240.
22. Wraith, J. E., Scarpa, M., Beck, M., Bodamer, O. A., De Meirleir, L., Guffon, N., Meldgaard Lund, A., Malm, G., Van der Ploeg, A. T., and Zeman, J. (2008) Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur. J. Pediatr. 167, 267-277.
23. Harmatz, P., Giugliani, R. D., Schwartz, I. V., Guffon, N., Teles, E. L., Miranda, M. C. S., Wraith, J. E., Beck, M., Arash, L., Scarpa, M., Ketteridge, D., Hopwood, J. J., Plecko, B., Steiner, R., Whitley, C. B., Kaplan, P., Yu, Z.-F., Swiedler, S. J., and Decker, C. (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol. Genet. Metab. 94, 469-475.
24. Nicolino, M., Byrne, B., Wraith, J. E., Leslie, N., Mandel, H., Freyer, D. R., Arnold, G. L., Pivnick, E. K., Ottinger, C. J., Robinson, P. H., Loo, J. C., Smitka, M., Jardine, P., Tato, L., Chabrol, B., McCandless, S., Kimura, S., Mehta, L., Bali, D., Skrinar, A., Morgan, C., Rangachari, L., Corzo, D., and Kishnani, P. S. (2009) Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet. Med. 11, 210-219.
25. Wang, J., Lozier, J., Johnson, G., Kirshner, S., Verthelyi, D., Pariser, A., Shores, E., and Rosenberg, A. (2008) Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat. Biotechnol. 26, 901-908.
26. Wraith, J. E., Clarke, L. A., Beck, M., Kolodny, E. H., Pastores, G. M., Muenzer, J., Rapoport, D. M., Berger, K. I., Swiedler, S. J., Kakkis, E. D., Braakman, T., Chadbourne, E., Walton-Bowen, K., and Cox, G. F. (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J. Pediatr. 144, 581-588. (Pubitemid 38594757)
27. Kakavanos, R., Turner, C. T., Hopwood, J. J., Kakkis, E. D., and Brooks, D. A. (2003) Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. Lancet 361, 1608-1613. (Pubitemid 36578998)
28. Kakkis, E. D., Muenzer, J., Tiller, G. E., Waber, L., John Belmont, J., Merry Passage, M., Izykowski, B., Phillips, J., Doroshow, R., Irv Walot, I., Richard Hoft, R., Yu, K. T., Okazaki, S., Dave Lewis, D., Ralph Lachman, R., Jerry, N. Thompson, J. N., and Neufeld, F. E. (2001) Enzyme-replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med. 344, 182-188.
29. Beck, M. (2006) Galsulfase: enzyme-replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). Therapy 3, 9-17.
30. Muenzer, J., Wraith, J. E., Beck, M., Giugliani, R., Harmatz, P., Eng, C. M., Vellodi, A., Martin, R., Ramaswami, U., Gucsavas-Calikoglu, M., Vijayaraghavan, S., Wendt, S., Puga, A., Ulbrich, B., Shinawi, M., Cleary, M., Piper, D., Conway, A. M., and Kimura, A. (2006) A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet. Med. 8, 465-473. (Pubitemid 44239134)
31. Linthorst, G. E., Hollak, C. E., Donker-Koopman, W. E., Strijland, A., and Aerts, J. M. (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int. 66, 1589-1595. (Pubitemid 39298394)
32. Wilcox, W. R., Banikazemi, M., Guffon, N., Waldek, S., Lee, P., Linthorst, G. E., Desnick, R. J., and Germain, D. P. (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. 75, 65-74.
33. Rosenberg, M., Kingma, W., Fitzpatrick, M. A., and Richards, S. M. (1999) Immunosurveillance of alglucerase enzyme therapy for Gaucher patients: induction of humoral tolerance in seroconverted patients after repeat administration. Blood 93, 2081-2088. (Pubitemid 29128512)
34. Kishnani, P. S., Corzo, D., Nicolino, M., Byrne, B., Mandel, H., Hwu, W. L., Leslie, N., Levine, J., Spencer, C., McDonald, M., Li, J., Dumontier, J., Halberthal, M., Chien, Y. H., Hopkin, R., Vijayaraghavan, S., Gruskin, D., Bartholomew, D., van der Ploeg, A., Clancy, J. P., Parini, R., Morin, G., Beck, M., De la Gastine, G. S., Jokic, M., Thurberg, B., Richards, S., Bali, D., Davison, M., Worden, M. A., Chen, Y. T., and Wraith, J. E. (2007) Recombinant human acid α-glucosidase: major clinical benefits in infantile-onset pompe disease. Neurology 68, 99-109. (Pubitemid 46071892)
35. Sun, B., Bird, A., Young, S. P., Kishnani, P. S., Chen, Y. T., and Koeberl, D. D. (2007) Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. Am. J. Hum. Genet. 81, 1042-1049.
36. Platt, F. M., Neises, G. R., Dwek, R. A., and Butters, T. D. (1994) N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem. 269, 8362-8365.
37. Cox, T., Lachmann, R., Hollak, C., Aerts, J., van Weely, S., Hrebicek, M., Platt, F., Butters, T., Dwek, R., Moyses, C., Gow, I., Elstein, D., and Zimran, A. (2000) Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355, 1481-1485. (Pubitemid 30237353)
38. Ficicioglu, C. (2008) Review of miglustat for clinical management in Gaucher disease type 1. Ther. Clin. Risk Manag. 4, 425-431.
39. Walkley, S. U. and Vanier, M. T. (2009) Secondary lipid accumulation in lysosomal disease. Biochim. Biophys. Acta 1793, 726-736.
40. Patterson, M. C., Vecchio, D., Prady, H., Abel, L., and Wraith, J. E. (2007) Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 6, 765-772. (Pubitemid 47238662)
41. McEachern, K. A., Fung, J., Komarnitsky, S., Siegel, C. S., Chuang, W. L., Hutto, E., Shayman, J. A., Grabowski, G. A., Aerts, J. M., Cheng, S. H., Copeland, D. P., and Marshall, J. (2007) A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol. Genet. Metab. 91, 259-267.
42. Roberts, A. L., Rees, M. H., Klebe, S., Fletcher, J. M., and Byers, S. (2007) Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. Mol. Genet. Metab. 92, 115-121.
43. Piotrowska, E., Jakóbkiewicz-Banecka, J., Tylki-Szymanska, A., Liberek, A., Maryniak, A., Malinowska, M., Czartoryska, B., Puk, E., Kloska, A., Liberek, T., Baranska, S., Wegrzyn, A., and Wegrzyn, G. (2008) Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr. Ther. Res. 69, 166-179.
44. Fan, J. Q., Ishii, S., Asano, N., and Suzuki, Y. (1999) Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat. Med. 5, 112-115.
45. Porto, C., Cardone, M., Fontana, F., Rossi, B., Tuzzi, M. R., Tarallo, A., Barone, M. V., Andria, G., and Parenti, G. (2009) The pharmacological chaperone n-butyldeoxynojirimycin enhances enzyme replacement therapy in pompe disease fibroblasts. Mol. Ther. 17, 964-971.
46. Tropak, M. B., Kornhaber, G. J., Rigat, B. A., Maegawa, G. H., Buttner, J. D., Blanchard, J. E., Murphy, C., Tuske, S. J., Coales, S. J., Hamuro, Y., Brown, E. D., and Mahuran, D. J. (2008) Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry. Chembiochem 9, 2650-2662.
47. Benjamin, E. R., Flanagan, J. J., Schilling, A., Chang, H. H., Agarwal, L., Katz, E., Wu, X., Pine, C., Wustman, B., Desnick, R. J., Lockhart, D. J., and Valenzano, K. J. (2009) The pharmacological chaperone 1- deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J. Inherit. Metab. Dis. 32, 424-440.
48. Sands, M. S. and Davidson, B. L. (2006) Gene therapy for lysosomal storage diseases. Mol. Ther. 13, 839-849.
49. Mango, R. L., Xu, L., Sands, M. S., Vogler, C., Seiler, G., Schwarz, T., Haskins, M. E., and Ponder, K. P. (2004) Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. Mol. Genet. Metab. 82, 4-19.
50. Li, C., Ziegler, R. J., Cherry, M., Lukason, M., Desnick, R. J., Yew, N. S., and Cheng, S. H. (2002) Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease. Mol. Ther. 5, 745-754.
51. Passini, M. A., Dodge, J. C., Bu, J., Yang, W., Zhao, Q., Sondhi, D., Hackett, N. R., Kaminsky, S. M., Mao, Q., Shihabuddin, L. S., Cheng, S. H., Sleat, D. E., Stewart, G. R., Davidson, B. L., Lobel, P., and Crystal, R. G. (2006) Intracranial delivery of CLN2 reduces brain pathology in a mouse model of classical late infantile neuronal ceroid lipofuscinosis. J. Neurosci. 26, 1334-1342. (Pubitemid 43237004)
52. Worgall, S., Sondhi, D., Hackett, N. R., Kosofsky, B., Kekatpure, M. V., Neyzi, N., Dyke, J. P., Ballon, D., Heier, L., Greenwald, B. M., Christos, P., Mazumdar, M., Souweidane, M. M., Kaplitt, M. G., and Crystal, R. G. (2008) Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum. Gene Ther. 19, 463-474.
53. Asheuer, M., Pflumio, F., Benhamida, S., Dubart-Kupperschmitt, A., Fouquet, F., Imai, Y., Aubourg, P., and Cartier, N. (2004) Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein. Proc. Natl. Acad. Sci. USA 101, 3557-3562.
54. Biffi, A., Capotondo, A., Fasano, S., del Carro, U., Marchesini, S., Azuma, H., Malaguti, M. C., Amadio, S., Brambilla, R., Grompe, M., Bordignon, C., Quattrini, A., and Naldini, L. (2006) Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J. Clin. Invest. 116, 3070-3082.
55. De Palma, M., Montini, E., de Sio, F. R., Benedicenti, F., Gentile, A., Medico, E., and Naldini, L. (2005) Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells. Blood 105, 2307-2315. (Pubitemid 40387024)
56. Jeyakumar, M., Smith, D. A., Williams, I. M., Borja, M. C., Neville, D. C., Butters, T. D., Dwek, R. A., and Platt, F. M. (2004) NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Ann. Neurol. 56, 642-649.
57. Brooks, D. A., Muller, V. J., and Hopwood, J. J. (2006) Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol. Med. 12, 367-373.
58. Hein, L. K., Bawden, M., Muller, V. J., Sillence, D., Hopwood, J. J., and Brooks, D. A. (2004) Alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J. Mol. Biol. 338, 453-462.
59. Jeyakumar, M., Norflus, F., Tifft, C. J., Cortina-Borja, M., Butters, T. D., Proia, R. L., Perry, V. H., Dwek, R. A., and Platt, F. M. (2001) Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 97, 327-329. (Pubitemid 32061278)
60. Schiffmann, R., Fitzgibbon, E. J., Harris, C., DeVile, C., Davies, E. H., Abel, L., van Schaik, I. N., Benko, W., Timmons, M., Ries, M., and Vellodi, A. (2008) Randomized, controlled trial of miglustat in Gaucher's disease type 3. Ann. Neurol. 64, 514-522.
61. Zhang, X. K., Elbin, C. S., Chuang, W. L., Cooper, S. K., Marashio, C. A., Beauregard, C., and Keutzer, J. M. (2008) Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin. Chem. 54, 1725-1728.