Substrate reduction therapy: Clinical evaluation in type 1 Gaucher disease

Philosophical Transactions of the Royal Society B: Biological Sciences

Volumn 358, Issue 1433, 2003, Pages 955-960

  Moyses, Chris ^a  

^a The Forum   (United Kingdom)

Author keywords

Gaucher disease; Lysosomal storage disorders; Miglustat; N butyldeoxynojirimycin; Substrate reduction therapy

Indexed keywords

BIOCHEMISTRY;

EID: 0037762566     PISSN: 09628436     EISSN: None     Source Type: Journal    
DOI: 10.1098/rstb.2003.1271     Document Type: Conference Paper

References (40)

1. Aerts, J. M. & Hollak, C. E. 1997 Plasma and metabolic abnormalities in Gaucher's Disease. Bailliere's Clin. Haematol. 10, 691-709.
2. Aerts, J. M., Hollak, C., Boot, R. & Groener, A. 2003 Biochemistry of glycosphingolipid storage disorders: implications for therapeutic intervention. Phil. Trans. R. Soc. Lond. B 358, 905-914. (DOI 10.1098/rstb.2003.1273.)
3. Anderson, N. L. & Anderson, N. G. 1998 Proteome and proteomics: new technologies, new concepts, and new words. Electrophoresis 19, 1853-1861.
4. Anon. 1998 Profiting from proteomics: strategies and technologies. London: PJB.
5. Barranger, J. A. & Ginns, E. I. 1989 Glucosylceramide lipidoses: Gaucher's Disease. In The metabolic basis of inherited disease (ed. C. R. Scriver, A. L. Beaudet, S. W. Sly & D. Valle), pp. 1677-1698. New York: McGraw-Hill.
6. Barton, N. W. (and 11 others) 1991 Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's Disease. N. Engl. J. Med. 324, 1464-1470.
7. Beutler, E. 1997 Enzyme replacement therapy for Gaucher's Disease. Baillieres Clin. Haematol. 10, 751-763.
8. Beutler, E., Demina, A., Laubscher, K., Garver, P., Gelbart, T., Balicki, D. & Vaughan, L. 1995 The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol. Dis. 21, 86-108.
9. Block, T. M., Lu, X., Platt, F. M., Foster, G. R., Gerlich, W. H., Blumbers, B. S. & Dwek, R. A. 1994 Secretion of human hepatitis B virus is inhibited by the imino sugar N-butyldeoxynojirimycin. Proc. Natl Acad. Sci. USA 91, 2235-2239.
10. Brady, R. O. 1997 Gaucher's disease: past present and future. Baillieres Clin. Haematol. 10, 621-634.
11. Brady, R. O. 2003 Enzyme replacement therapy: conception, chaos and culmination. Phil. Trans. R. Soc. Lond. B 358, 915-919. (DOI 10.1098/rstb.2003.1269.)
12. Butters, T. D., Mellor, H. R., Narita, K., Dwek, R. A. & Platt, F. M. 2003 Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Phil. Trans. R. Soc. Lond. B 358, 927-945. (DOI 10.1098/rstb.2003.1278.)
13. Cox, T. (and 12 others) 2000 Novel oral treatment of Gaucher's Disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355, 1481-1485.
14. Elstein, D., Abrahamov, A., Hadas-Halpern, I., Meyer, A. & Zimran, A. 1998 Low-dose frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type 1 Gaucher disease. Q. J. Med. 91, 483-488.
15. 3. J. Acquired Immune Deficiency Syndrome 7, 139-147.
16. Fischer, P. B., Collin, M., Karlsson, G. B., James, W., Butters, T. D., Davis, S. J., Gordon, S., Dwek, R. A. & Platt, F. M. 1995 The alpha-glucosidase inhibitor N-butyldeoxynojirimycin inhibits human immunodeficiency virus entry at the level of post-CD4 binding. J. Virol. 69, 5791-5797.
17. Fischer, P. B., Karlsson, G. B., Butters, T. D., Dwek, R. A. & Platt, F. M. 1996 N-butyldeoxynojirimycin-mediated inhibition of human immunodeficiency virus entry correlates with changes in antibody recognition of the V1/V2 region of gp120. J. Virol. 70, 7143-7152.
18. Fleet, G. W. J. (and 13 others) 1988 Inhibition of HIV replication by amino-sugar derivatives. FEBS Lett. 273, 128-132.
19. Grabowski, G. A., Barton, N. W., Pastores, G., Dambrosia, J. M., Banjeree, T. K., McKee, M. A., Parker, C., Schiffmann, R., Hill, S. C. & Brady, R. O. 1995 Enzyme therapy in Type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann. Int. Med. 122, 33-39.
20. Hollak, C. E., Van Weely, S., Van Oers, M. H. & Aerts, J. M. 1994 Marked elevation of plasma chitotriosidase activity: a novel hallmark of Gaucher disease. J. Clin. Invest. 93, 1288-1292.
21. Hollak, C. E., Aerts, J. M., Goudsmit, R., Phoa, S. S., Ek, M., van Weely, S., von dem Borne, A. E. & van Oers, M. H. 1995 Individualised low-dose alglucerase therapy for Type 1 Gaucher's Disease. Lancet 345, 1474-1478.
22. Jeyakumar, M., Butters, T. D., Cortina-Borja, M., Hunnam, V., Proia, R. L., Perry, V. H., Dwek, R. A. & Platt, F. M. 1999 Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Natl Acad. Sci. USA 96, 6388-6393.
23. Karlsson, G. B., Butters, T. D., Dwek, R. A. & Platt, F. M. 1993 Effects of the imino sugar N-butyldeoxynojirimycin on the N-glycosylation of recombinant gp120. J. Biol. Chem. 268, 570-576.
24. Lachmann, R. H. & Platt, F. M. 2001 Substrate reduction therapy for glycosphingolipid storage disorders. Exp. Opin. Invest. Drugs 10, 455-466.
25. Pastores, G. M., Sibille, A. R. & Grabowski, G. A. 1993 Enzyme therapy in Gaucher disease Type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months. Blood 82, 408-416.
26. Persidis, A. 1998 Proteomics. Nature Biotech. 16, 393-394.
27. Petrescu, S. M., Branza-Nichita, N., Negroiu, C., Petrescu, A. J. & Dwek, R. A. 2000 Tyrosinase and glycoprotein folding: roles of chaperones that recognize glycans. Biochemistry 39, 5229-5237.
28. Platt, F. M. & Butters, T. D. 1998 New therapeutic prospects for the glycosphingolipid lysosomal storage diseases. Biochem. Pharmacol. 56, 421-430.
29. Platt, F. M., Karlsson, G. B. & Jacob, G. S. 1992 Modulation of cell-surface transferring receptor by the imino sugar N-butyldeoxynojirimycin. Eur. J. Biochem. 208, 187-193.
30. Platt, F. M., Neises, G. R., Dwek, R. A. & Butters, T. D. 1994 N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem. 269, 8362-8365.
31. Platt, F. M., Reinkensmeier, G., Dwek, R. A. & Butters, T. D. 1997a Extensive glycosphingolipid depletion in the liver and lymphoid organs of mice treated with N-butyldeoxynojirimycin. J. Biol. Chem. 272, 19 365-19 372.
32. Platt, F. M., Neises, G. R., Reinkensmeier, G., Townsend, M. J., Perry, V. H., Proia, R. L., Winchester, B., Dwek, R. A. & Butters, T. D. 1997b Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276, 428-431.
33. Platt, F. M., Jeyakumar, M., Andersson, U., Heare, T., Dwek, R. A. & Butters, T. D. 2003 Substrate reduction therapy in mouse models of the glycosphingolipidoses. Phil. Trans. R. Soc. Lond. B 358, 947-954. (DOI 10.1098/rstb.2003.1279.)
34. Suzuki, K. & Proia, R. L. 1998 Mouse models of human lysosomal diseases. Brain Pathol. 8, 195-215.
35. Tierney, M. (and 10 others) 1995 The tolerability and pharmacokinetics of N-butyldeoxynojirimycin in patients with advanced HIV disease (ACTG 100): the AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases. J. Acquired Immune Deficiency Syndrome Human Retrovirus 10, 549-553.
36. Van Weely, S. (and 11 others) 1991 Clinical phenotype in relation to properties of mutant glucocerebrosidase in cultured fibroblasts. Biochim. Biophys. Acta 1096, 301-311.
37. Young, E., Chatterton, C., Vellodi, A. & Winchester, B. 1997 Plasma chitotriosidase activity in Gaucher's disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase. J. Inherit. Metab. Dis. 20, 595-602.
38. Zimran, A., Elstein, D., Kannai, R., Zevin, S., Hadas-Halpern, I., Levy-Lahad, E., Cohen, Y., Horowitz, A. & Abrahamov, A. 1994 Low-dose enzyme replacement therapy for Gaucher's Disease: effects of age, sex, genotype and clinical features on response to treatment. Am. J. Med. 97, 3-13.
39. Zimran, A., Elstein, D., Levy-Lahad, E., Zevin, S., Hadas-Halpern, I., Bar-Ziv, Y., Foldes, J., Schwartz, A. J. & Abrahamov, A. 1995 Replacement therapy with imiglucerase for non-neuronopathic Gaucher's Disease. Lancet 345, 1479-1480.
40. Zitzman, N., Mehta, A. S., Carrouee, S., Butters, T. D., Platt, F. M., McCauley, J., Blumberg, B. S., Dwek, R. A. & Block, T. M. 1999 Imino sugars inhibit the formation and secretion of bovine diarrhea virus, a pestivirus model of hepatitis C virus: implications for the development of broad spectrum anti-hepatitis virus agents. Proc. Natl Acad. Sci. USA 96, 11 878-11 882.