Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Lancet

Volumn 355, Issue 9214, 2000, Pages 1481-1485

  Cox, Timothy ^a   Lachmann, Robin ^a   Hollak, Carla ^b   Aerts, Johannes ^b   Van Weely, Sonja ^b   Hrebícek, Martin ^c   Platt, Frances ^d   Butters, Terry ^d   Dwek, Raymond ^d   Moyses, Chris ^e   Gow, Irene ^e   Elstein, Deborah ^f   Zimran, Ari ^f  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^d UNIVERSITY OF OXFORD   (United Kingdom)

^e Oxford GlycoSciences   (United Kingdom)

^f SHAARE ZEDEK MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ENZYME; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; MIGLUSTAT;

ADULT; AGED; ARTICLE; BIOSYNTHESIS; BLOOD CELL COUNT; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL TRIAL; COMPUTER ASSISTED TOMOGRAPHY; DIARRHEA; DRUG EFFICACY; DRUG SAFETY; ENZYME ACTIVITY; FEMALE; GAUCHER DISEASE; HEMATOLOGY; HUMAN; LIVER WEIGHT; LYSOSOME; MALE; MULTICENTER STUDY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SPLEEN WEIGHT;

EID: 0034728914     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(00)02161-9     Document Type: Article

References (22)

1. Beutler E., Grabowski G.A. Glucocerebroside lipidoses: Gaucher disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease, 7th edn. 1995;2641-2670 McGraw Hill, New York.
2. Zimran A., Kay A., Gelbart T.et al. Gaucher disease. clinical, laboratory, radiologic, and genetic features of 53 patients Medicine (Baltimore). 71:1992;337-353.
3. Cox T.M., Schofield J.P. Gaucher's disease. clinical features and natural history Bailliere's Clin Haematol. 10:1997;657-689.
4. Grabowski G.A., Barton N.W., Pastores G.et al. Enzyme therapy in non-neuronopathic Gaucher disease. comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources Ann Intern Med. 122:1995;33-39.
5. Zimran A., Elstein D., Levy Lahad E.et al. Replacement therapy with imiglucerase for non-neuronopathic Gaucher's disease. Lancet. 345:1995;1479-1480.
6. Platt F.M., Neises G.R., Dwek R.A., Butters T.D. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem. 269:1994;8362-8365.
7. Inokuchi J., Radin N.S. Preparation of the active isomer of 1-phenyl-2-decanoylamino-3-morpholino-1-propanol inhibitor of murine glucocerebroside synthetase. J Lipid Chem. 28:1987;565-571.
8. Conzelmann E., Sandhoff K. Partial enzyme deficiency. residual acitvities on the development of neurological disorders Dev Neurosci. 6:1983;58-71.
9. Tierney M., Pottage J., Kessler H.et al. The tolerability and pharmacokinetics of N-butyl-deoxynojirimycin in patients with advanced HIV disease (ACTG 100). the AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases J Acquir Immune Defic Syndr Hum Retrovir. 10:1995;549-553.
10. 3. J Acquir Immune Defic Syndr. 7:1994;139-147.
11. Platt F.M., Neises G.R., Reinkensmeier G.et al. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science. 276:1997;428-431.
12. Jeyakumar M., Butters T.D., Cortina-Borja M.et al. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc Natl Acad Sci USA. 96:1999;6388-6393.
13. Takamiya K., Yamamoto A., Furukawa K.et al. Mice with disrupted GM2/GD2 synthase gene lack complex gangliosides but exhibit only subtle defects in their nervous system. Proc Natl Acad Sci USA. 93:1996;10662-10667.
14. Aerts J.M., Hollak C.E. Plasma and metabolic abnormalities in Gaucher's disease. Bailliere's Clin Haematol. 10:1997;691-709.
15. Hollak C.E., van Weely S., van Oers M.H., Aerts J.M. Marked elevation of plasma chitotriosidase activity. a novel hallmark of Gaucher disease J Clin Invest. 93:1994;1288-1292.
16. Elstein D., Abrahamov A., Hadas-Halpern I.et al. Low-dose frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease. QJM. 91:1998;483-488.
17. Guo Y., He W., Boer A.M.et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis. 18:1995;717-722.
18. Barton N.W., Brady R.O., Dambrosia J.M.et al. Replacement therapy for inherited enzyme deficiency. macrophage-targeted glucocerebrosidase for Gaucher's disease N Engl J Med. 324:1991;1464-1470.
19. Brady R.O. Glucocerebroside lipidoses: Gaucher's disease. Stanbury J.B., Wyngaarden J.B., Fredrickson D.S. The metabolic basis of inherited disease, 4th edn. 1978;731-746 McGraw-Hill, New York.
20. Kattlove H.E., Williams J.C., Gaynor E., Spivack M., Bradley R.M., Brady R.O. Gaucher cells in chronic myelocytic leukemia. an acquired abnormality Blood. 33:1969;379-390.
21. Platt F.M., Neises G.R., Karlsson G.B., Dwek R.A., Butters T.D. N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem. 269:1994;27108-27114.
22. Andersson U., Butters T.D., Dwek R.A., Platt F.M. N-butyldeoxygalactonojirimycin. a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynijirimycin, in vivo and in vitro Biochem Pharmacol. 59:2000;821-829.