The role of the iminosugar N-butyldeoxynojirmycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

Journal of Inherited Metabolic Disease

Volumn 26, Issue 6, 2003, Pages 513-526

  Cox, T M ^a   Aerts, J M F G ^b   Andria, G ^c   Beck, M ^d   Belmatoug, N ^e   Bembi, B ^f   Chertkoff, R ^g   Vom Dahl, S ^h   Elstein, D ⁱ   Erikson, A ^j   Giralt, M ^k   Heitner, R ^l   Hollak, C ^m   Hrebicek, M ⁿ   Lewis, S ^o   Mehta, A ^p   Pastores, G M ^q   Rolfs, A ^r   Sa Miranda, M C ^s   Zimran, A ⁱ  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^e BEAUJON HOSPITAL   (France)

^f INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^g Israeli Gaucher Patients Association   (Israel)

^h UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

ⁱ SHAARE ZEDEK MEDICAL CENTER   (Israel)

^j UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^k HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^l UNIVERSITY OF THE WITWATERSRAND   (South Africa)

^m ACADEMIC MEDICAL CENTER   (Netherlands)

ⁿ Charles University in Prague and General University Hospital in Prague   (Czech Republic)

^o Gauchers Association   (United Kingdom)

^p ROYAL FREE HOSPITAL   (United Kingdom)

^q NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^r UNIVERSITY OF ROSTOCK   (Germany)

^s NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE DERIVATIVE; GLYCOLIPID; GLYCOSPHINGOLIPID; IMIGLUCERASE; IMINO ACID; MANNOSE; MIGLUSTAT; UNCLASSIFIED DRUG;

BIOSYNTHESIS; BODY WEIGHT DISORDER; CLINICAL FEATURE; CLINICAL TRIAL; COGNITIVE DEFECT; DIARRHEA; DISEASE CLASSIFICATION; DRUG EFFICACY; DRUG MECHANISM; DRUG TARGETING; ENZYME REPLACEMENT; ENZYME SUBSTRATE; FABRY DISEASE; GAUCHER DISEASE; HEALTH CARE ORGANIZATION; HUMAN; LICENSING; LIPIDOSIS; MACROPHAGE; PERIPHERAL NEUROPATHY; REVIEW; WEIGHT REDUCTION;

CLINICAL TRIALS; ENZYMES; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HUMANS;

EID: 10744226382     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1025902113005     Document Type: Review

References (46)

1. Aerts JMFG, Hollak CEM (1997) Plasma and metabolic abnormalities in Gaucher's disease. In: Zimran A, ed. Baillière's Clinical Haematology: Gaucher's Disease, Vol. 10. London: Baillière-Tindall, 691-709.
2. Barton NW, Brady RO, Dambrosia JM, et al (1991) Replacement therapy for inherited enzyme deficiency - macrophage-targeted glucocerebrosidase for Gaucher disease. N Engl J Med 324: 1464-1470.
3. Beutler E, Grabowski GA (2001) Gaucher disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds; The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635-3668.
4. Beutler E (1996) Effect of low dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement: commentary. Blood Cells Mol Dis 22: 113-114.
5. Beutler E, Gelbart T (1996) Mutation update. Glucocerebrosidase (Gaucher disease) Hum Mutat 8: 207-213.
6. Beutler E, Demina A, Laubscher K, et al (1995a) The clinical course of treated and untreated Gaucher disease. A study of 45 patients. Blood Cells Mol Dis 21: 86-108.
7. Beutler E, Kuhl W, Vaughan LM (1995b) Failure of alglucerase infused in Gaucher disease to localise in marrow macrophages. Mol Med 1: 320-324.
8. Boot RG, Hollak CEM, Verhoek M, et al (1997) Glucocerebrosidase genotype of Gaucher disease patients in the Netherlands: limitations in prognostic value. Hum Mutat 10(5): 348-358.
9. Brady RO (1978) Glucosyl ceramide lipidosis: Gaucher's disease. In Stanbury JB, Wyngaarden JB, Fredickson DS, eds; The Metabolic Basis of Inherited Disease, 4th edn. New York: McGraw-Hill: 731-746.
10. Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of glucocerebrosides. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 18(2): 221-225.
11. Conzelmann E, Sandhoff K (1983) Partial enzyme deficiency: residual activities on the development of neurological disorders. Dev Neurosci 6: 58-71.
12. Cox TM, Schofield JP (1997) Gaucher's disease: clinical features and natural history. In: Zimran A, ed. Baillière's Clinical Haematology: Gaucher's Disease, Vol. 10. London: Baillière-Tindall, 657-689.
13. Cox T, Lachmann R, Hollak C, et al (2000) Novel oral treatment of Gaucher disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355: 1481-1485.
14. Damiano AM, Pastores GM, Ware JE Jr (1998) The health-related quality of life of adults with Gaucher's disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res 7(5): 373-386.
15. Elstein D, Hadas-Halpern I, Itzchaki M, et al (1996) Effect of low-dose ERT on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis 22: 104-111.
16. Elstein D, Abrahamov A, Hadas-Halpern I, Zimran A (2000) Withdrawal of enzyme replacement therapy in Gaucher's disease. Br J Haematol 110: 488-492.
17. Elstein D, Dwek A, Attias D, et al (2002). A randomised study of OGT 918 as an oral therapy in patients previously treated with enzyme replacement for type 1 Gaucher disease. Presented at the Fifth Workshop of the European Working Group on Gaucher Disease, Prague, 1-4 May 2002.
18. 3. J Acquired Immune Defic Syndr 7: 139-147.
19. Germain DP, Kaneski CR, Brady RO (2001) Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralising antibody to alglucerase. Mutat Res 483(1-2): 89-94.
20. 12 in a multi-ethnic Israeli population. Br J Haematol 115(3): 707-709.
21. Giraldo P, Pocovi M, Perez-Calvo J, Rubio-Felix D, Giralt M (2000) Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics. Haematologica 85(8): 792-799.
22. Grabowski GA, Horowitz M (1997) Gaucher's disease: molecular, genetic and enzymological aspects. In Zimran A, ed. Baillières Clinical Haematology: Gaucher's Disease. London: Baillière-Tindall, 635-656.
23. Grabowski GA, Barton NW, Pastores G, et al (1995) Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med 122: 33-39.
24. Heitner R, Elstein D, Aerts J, van Weely S, Zimran A (2002) Low-dose N-butyldeoxynojirimycin (OGT 918) for type 1 Gaucher disease. Blood Cells Mol Dis 28(2): 127-133.
25. Hollak CEM, Aerts JMFG, Goudsmit R, et al (1995) Individualised low-dose alglucerase therapy for type 1 Gaucher disease. Lancet 345: 1474-1478.
26. Hollak CEM, Mass M, Akkerman E, den Heeten A, Aerts JMFG (2001) Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease. Blood Cells Mol Dis 27(6): 1005-1012.
27. Inokuchi J, Radin NS (1987) Preparation of the active isomer of 1-phenyl-2-decanoyl-amino-3-morpholino-1-propanol inhibitor of murine glucocerebroside synthetase. J Lipid Chem 28: 565-571.
28. Knudson AG, Kaplan WD (1962) Genetics of the sphingolipidoses. In Aronson SM, Volk BW eds; Cerebral Sphingolipidoses. New York: Academic Press, 395.
29. Lachmann RH, Platt FM (2001) Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin Invest Drugs 10(3): 455-466.
30. Levy-Lahad E, Zimran A (1997) Gaucher's disease: genetic counselling and population screening. In Zimran A, ed. Baillière's Clinical Haematology: Gaucher's Disease. London: Baillière-Tindall, 779-793.
31. Masek BJ, Sims KB, Bove CM, et al (1999) Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res 8: 263-268.
32. Maaswinkel-Mooij P, Hollak C, van Eysden-Plaisier M, et al (2000) The natural course of Gaucher disease in the Netherlands: implications for monitoring of disease manifestations. J Inherit Metab Dis 23(1): 77-82.
33. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. J Am Med Assoc 282(3): 249-254.
34. Pastores GM, Sibille AR, Grabowski GA (1993) Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in thirty-three patients treated for 6 to 24 months. Blood 82: 408-416.
35. Platt FM, Neises GR, Dwek RA, Butters TD (1994) N-Butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 269: 8362-8365.
36. Poll LW, Koch JA, Willers R, et al (2002) Correlation of bone marrow response with hematological, biochemical, and visceral responses to enzyme replacement therapy of non-neuronopathic (type 1) Gaucher disease in 30 adult patients. Blood Cells Mol Dis 28(2): 209-220.
37. Richards SM, Olson TA, McPherson JM (1993) Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 82(5): 1402-1409.
38. Rosenthal DI, Doppelt SH, Mankin HJ, et al (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629-637.
39. Tierney M, Pottage J, Kessler H, et al (1995) The tolerability and pharmacokinetics of N-butyldeoxynojirimycin in patients with advanced HIV disease (ACTG 100): the AIDS Clinical Trial Group (ACTG) of the National Institute of Allergy and Infectious Diseases. J Acquired Immune Defic Syndr Hum Retrovir 10: 549-553.
40. Vellodi A, Bembi B, de Villemeur TB, et al (2001) Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 24(3): 319-327.
41. vom Dahl S, Poll LW, Häussinger D (2001) Clinical monitoring after cessation of enzyme replacement therapy in M. Gaucher. Br J Haematol 113: 1084-1186.
42. Weinreb NJ (2001) Interruption in enzyme replacement therapy for Gaucher disease. Br J Haematol 113: 1087-1088.
43. Weinreb NJ, Charrow J, Andersson HC, et al (2002) 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 113: 112-119.
44. Zimran A, Kay A, Gelbart T, et al (1992) Gaucher disease: clinical, laboratory, radiologic and genetic features of 53 patients. Medicine (Baltimore) 71(6): 337-353.
45. Zimran A, Elstein D, Kannai R, et al (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.
46. Zimran A, Elstein D, Levy-Lahad E, et al (1995) Replacement therapy with imiglucerase for type 1 Gaucher's disease. Lancet 345: 1479-1480.