Gaucher disease: Unmet treatment needs

Acta Paediatrica, International Journal of Paediatrics

Volumn 97, Issue SUPPL. 457, 2008, Pages 83-87

  Mehta, Atul ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Enzyme replacement therapy; Gaucher disease; Substrate reduction therapy; Treatment

Indexed keywords

BIOLOGICAL MARKER; CERAMIDE DERIVATIVE; GLUCOSYLCERAMIDASE; IMIGLUCERASE; MIGLUSTAT;

ANEMIA; BONE DISEASE; CENTRAL NERVOUS SYSTEM; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; CLINICAL TRIAL; CONFERENCE PAPER; CYTOPENIA; ENZYME REPLACEMENT; GAUCHER DISEASE; HEMATOLOGIC DISEASE; HEMATOLOGIC MALIGNANCY; HEPATOSPLENOMEGALY; HUMAN; IMMUNE SYSTEM; MALIGNANT NEOPLASTIC DISEASE; NEUROLOGIC DISEASE; ORGAN SIZE; PRIORITY JOURNAL; RETICULOENDOTHELIAL SYSTEM; THROMBOCYTOPENIA;

1-DEOXYNOJIRIMYCIN; ALPHA-GLUCOSIDASES; ENZYME INHIBITORS; GAUCHER DISEASE; GLUCOSYLCERAMIDASE; HEALTH SERVICES ACCESSIBILITY; HEMATOLOGIC NEOPLASMS; HUMANS; KNEE JOINT; MAGNETIC RESONANCE IMAGING; RECOMBINANT PROTEINS;

EID: 41049113128     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.00653.x     Document Type: Conference Paper

References (40)

1. Beutler E, Gelbart T, Scott CR. Hematologically important mutations: Gaucher disease. Blood Cells Mol Dis 2005 35 : 355 64.
2. Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab 2007 90 : 157 63.
3. Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000 355 : 1481 5.
4. Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N- butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004 27 : 757 66.
5. Symeonidis A, Richfield L, Milligan A, Bruce R, Hughes D, Mehta A. Achievement of the goals of therapy for patients with Gaucher disease on ERT is higher among earlier treated patients. Haematologica 2007 92 (Suppl 1 277.
6. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. 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 2002 113 : 112 19.
7. Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004 41 : 4 14.
8. Cox TM, Aerts JM, Andria G, Beck M, Belmatoug N, Bembi B, et al. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J Inherit Metab Dis 2003 26 : 513 26.
9. Roca M, Mota J, Alfonso P, Pocovi M, Giraldo P. S-MRI score: a simple method for assessing bone marrow involvement in Gaucher disease. Eur J Radiol 2007 62 : 132 7.
10. Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs 2006 15 : 330 3.
11. Linthorst GE, Vedder AC, Ormel EE, Aerts JM, Hollak CE. Home treatment for Fabry disease: practice guidelines based on 3 years experience in the Netherlands. Nephrol Dial Transplant 2006 21 : 355 60.
12. ® human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis 2007 39 : 115 18.
13. Boven LA, van Meurs M, Boot RG, Mehta A, Boon L, Aerts JM, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 2004 122 : 359 69.
14. Muro S, Schuchman EH, Muzykantov VR. Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. Mol Ther 2006 13 : 135 41.
15. Lamghari M, Barrias CC, Sa Miranda C, Barbosa MA. Recombinant glucocerebrosidase uptake by Gaucher disease human osteoblast culture model. Blood Cells Mol Dis 2005 35 : 348 54.
16. Lonser RR, Schiffman R, Robison RA, Butman JA, Quezado Z, Walker ML, et al. Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease. Neurology 2007 68 : 254 61.
17. de Fost M, Vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, et al. Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis 2006 36 : 53 8.
18. Zimran A, Liphshitz I, Barchana M, Abrahamov A, Elstein D. Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis 2005 34 : 197 200.
19. Costello R, O'Callaghan T, Sebahoun G. Gaucher disease and multiple myeloma. Leuk Lymphoma 2006 47 : 1365 8.
20. Rosenbloom BE, Weinreb NJ, Zimran A, Kacena KA, Charrow J, Ward E. Gaucher disease and cancer incidence: a study from the Gaucher Registry. Blood 2005 105 : 4569 72.
21. Brody JD, Advani R, Shin LK, Bingham DB, Rosenberg SA. Splenic diffuse large B-cell lymphoma in a patient with type 1 Gaucher disease: diagnostic and therapeutic challenges. Ann Hematol 2006 85 : 817 20.
22. Burrow TA, Cohen MB, Bokulic R, Deutsch G, Choudhary A, Falcone RA Jr., et al. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy. J Pediatr 2007 150 : 202 6.
23. Krishnan B, Ganeshaguru K, Baker R, Richfield L, Mehta AB. Multidrug resistance and myelomonocytic leukaemia in Gaucher's disease. Haematologica 2003 88 : ECR02.
24. Goetzl EJ, Wang W, McGiffert C, Liao JJ, Huang MC. Sphingosine 1-phosphate as an intracellular messenger and extracellular mediator in immunity. Acta Paediatr 2007 96 (Suppl 455 49 52.
25. Gouaze-Andersson V, Cabot MC. Glycosphingolipids and drug resistance. Biochim Biophys Acta 2006 1758 : 2096 103.
26. Senchenkov A, Litvak DA, Cabot MC. Targeting ceramide metabolism - a strategy for overcoming drug resistance. J Natl Cancer Inst 2001 93 : 347 57.
27. Turzanski J, Grundy M, Shang S, Russell N, Pallis M. P-glycoprotein is implicated in the inhibition of ceramideinduced apoptosis in TF-1 acute myeloid leukemia cells by modulation of the glucosylceramide synthase pathway. Exp Hematol 2005 33 : 62 72.
28. Pastores GM, Barnett NL, Bathan P, Kolodny EH. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis 2003 26 : 641 5.
29. Sidransky E. Heterozygosity for a Mendelian disorder as a risk factor for complex disease. Clin Genet 2006 70 : 275 82.
30. Hughes DA, Ginsberg L, Baker R, Goodwin S, Milligan A, Richfield L, et al. Effective treatment of an elderly patient with Gaucher's disease and Parkinsonism: a case report of 24 months' oral substrate reduction therapy with miglustat. Parkinsonism Relat Disord 2007 13 : 365 8.
31. Halperin A, Elstein D, Zimran A. Are symptoms of peripheral neuropathy more prevalent in patients with Gaucher disease? Acta Neurol Scand 2007 115 : 275 8.
32. Ait-Aissa N, Jamieson V, Morand O, Goffin H. A clinical study to assess miglustat as maintenance therapy for adult patients with stable type 1 Gaucher disease (GD 1) after switch from enzyme replacement therapy (ERT): objectives and study design. J Inherit Metab Dis 2005 28 : 170.
33. Giraldo P, Latre P, Alfonso P, Acedo A, Alonso D, Barez A, et al. Short-term effect of miglustat in every day clinical use in treatment-naive or previously treated patients with type 1 Gaucher's disease. Haematologica 2006 91 : 703 6.
34. Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 2006 29 : 449 56.
35. McEachern KA, Fung J, Komarnitsky S, Siegel CS, Chuang WL, Hutto E, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab 2007 91 : 259 67.
36. Alfonso P, Pampin S, Estrada J, Rodriguez-Rey JC, Giraldo P, Sancho J, et al. Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations. Blood Cells Mol Dis 2005 35 : 268 76.
37. Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, et al. Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Mol Ther 2007 15 : 508 14.
38. McEachern KA, Nietupski JB, Chuang WL, Armentano D, Johnson J, Hutto E, et al. AAV8-mediated expression of glucocerebrosidase ameliorates the storage pathology in the visceral organs of a mouse model of Gaucher disease. J Gene Med 2006 8 : 719 29.
39. Chen RL, Hou JW, Chang PY, Tsai FJ, Wang PJ. Matched unrelated bone marrow transplantation without splenectomy for a child with Gaucher disease caused by homozygosity of the L444P mutation, who also suffered from schizencephaly. J Pediatr Hematol Oncol 2007 29 : 57 9.
40. Beck M. New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy. Hum Genet 2007 121 : 1 22.