Page 131 - 2021_02-Haematologica-web

Biomarkers in Gaucher disease
12. Deegan PB, Moran MT, McFarlane I, et al. Clinical evaluation of chemokine and enzy- matic biomarkers of Gaucher disease. Blood Cells Mol Dis. 2005;35(2):259-267.
13. van Dussen L, Hendriks EJ, Groener JE, et al. Value of plasma chitotriosidase to assess non- neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy. J Inherit Metab Dis. 2014;37(6):991- 1001.
14. Smid BE, Ferraz MJ, Verhoek M, et al. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. Orphanet J Rare Dis. 2016;11:28.
15. Schoonhoven A, Rudensky B, Elstein D, et al. Monitoring of Gaucher patients with a novel chitotriosidase assay. Clin Chim Acta. 2007;381(2):136-139.
16. Boot RG, Renkema GH, Verhoek M, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998;273(40):25680-25685.
17.Deegan PB, Pavlova E, Tindall J, et al. Osseous manifestations of adult Gaucher dis- ease in the era of enzyme replacement thera- py. Medicine (Baltimore). 2011; 90(1):52-60.
18. Riley RD, Lambert PC, Abo-Zaid G. Meta- analysis of individual participant data: ration- ale, conduct, and reporting. BMJ. 2010; 340:c221.
19. Stewart LA, Clarke MJ. Practical methodolo- gy of meta-analyses (overviews) using updat- ed individual patient data. Cochrane Working Group. Stat Med. 1995;14(19): 2057-2079.
20.Stewart LA, Clarke M, Rovers M, et al. Preferred reporting items for systematic review and meta-analyses of individual par- ticipant data: the PRISMA-IPD Statement. JAMA. 2015;313(16):1657-1665.
21.Raskovalova T, Deegan PB, Yang R, et al. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Syst Rev. 2017;6(1):87.
22. Hollak CE, Belmatoug N, Cole JA, et al. Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years. Br J Haematol. 2012;158(4):528-538.
23. WHO. Haemoglobin concentrations for the diagnosis of anaemia and assessment of severity. Vitamin and Mineral Nutrition Information System. Geneva: World Health Organization. 2011.
24. Bland JM, Altman DG. Transformations, means, and confidence intervals. BMJ. 1996;312(7038):1079.
25. Bland JM, Altman DG. The use of transfor- mation when comparing two means. BMJ. 1996;312(7039):1153.
26. Burke DL, Ensor J, Riley RD. Meta-analysis using individual participant data: one-stage and two-stage approaches, and why they may differ. Stat Med. 2017;36(5):855-875.
27. Stewart GB, Altman DG, Askie LM, et al. Statistical analysis of individual participant data meta-analyses: a comparison of meth- ods and recommendations for practice. PLoS One. 2012;7(10):e46042.
28. Ben Turkia H, Gonzalez DE, Barton NW, et al. Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. Am J Hematol. 2013;88(3):179-184.
29. Elstein D, Mehta A, Hughes DA, et al. Safety and efficacy results of switch from
imiglucerase to velaglucerase alfa treatment in patients with type 1 Gaucher disease. Am J Hematol. 2015;90(7):592-597.
30. Gonzalez DE, Turkia HB, Lukina EA, et al. Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: results from a randomized, double-blind, multina- tional, Phase 3 study. Am J Hematol. 2013; 88(3):166-171.
31. Zimran A, Altarescu G, Philips M, et al. Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood. 2010;115(23): 4651-4656.
32. Berger J, Vigan M, Pereira B, et al. Intra-mono- cyte pharmacokinetics of imiglucerase sup- ports a possible personalized management of Gaucher disease type 1. Clin Pharmacokinet. 2019;58(4):469-482.
33. Murugesan V, Chuang WL, Liu J, et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016; 91(11):1082-1089.
34. Zimran A, Brill-Almon E, Chertkoff R, et al. Pivotal trial with plant cell-expressed recom- binant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood. 2011;118(22):5767- 5773.
35.Zimran A, Gonzalez-Rodriguez DE, Abrahamov A, et al. Safety and efficacy of two dose levels of taliglucerase alfa in pedi- atric patients with Gaucher disease. Blood Cells Mol Dis. 2015;54(1):9-16.
36. Andrade-Campos MM, Garcia-Sobreviela MP, Medrano-Engay B, et al. Assessing under- lying chronic inflammation status in type 1 Gaucher disease patients (GD1): Involvement of lipocaline (LCN2) and other monocyte cytokines. Mol Genet Metab. 2017;120:S22.
37.Boot RG, Verhoek M, Langeveld M, et al. CCL18: a urinary marker of Gaucher cell bur- den in Gaucher patients. J Inherit Metab Dis. 2006;29(4):564-571.
38. Di Rocco M, Giona F, Carubbi F, et al. A new severity score index for phenotypic classifica- tion and evaluation of responses to treatment in type I Gaucher disease. Haematologica. 2008;93(8):1211-1218.
39. Giraldo P, Alfonso P, Atutxa K, et al. Real- world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project. Haematologica. 2009;94(12):1771-1775.
40. Giraldo P, Irun P, Alfonso P, et al. Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis. 2011;46(1):115-118.
41. Giraldo P, Pérez-López J, Núñez R, et al. Patients with type 1 Gaucher disease in Spain: a cross-sectional evaluation of health status. Blood Cells Mol Dis. 2016;56(1):23- 30.
42. Groener JE, Poorthuis BJ, Kuiper S, et al. Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to thera- peutic intervention. Biochim Biophys Acta. 2008;1781(1-2):72-78.
43. Limgala RP, Ioanou C, Plassmeyer M, et al. Time of initiating enzyme replacement ther- apy affects immune abnormalities and dis- ease severity in patients with Gaucher dis- ease. PLoS One. 2016;11(12):e0168135.
44.Lukina E, Watman N, Dragosky M, et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: phase 2 trial results after 4 years of treatment. Blood Cells Mol
45.
46.
47.
48.
49.
Dis. 2014;53(4):274-276.
Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015;313(7):695-706.
Pastores GM, Petakov M, Giraldo P, et al. A phase 3, multicenter, open-label, switchover trial to assess the safety and efficacy of tal- iglucerase alfa, a plant cell-expressed recom- binant human glucocerebrosidase, in adult and pediatric patients with Gaucher disease previously treated with imiglucerase. Blood Cells Mol Dis. 2014;53(4):253-260.
Drugan C, Drugan TC, Grigorescu-Sido P, et al. Modelling long-term evolution of chi- totriosidase in non-neuronopathic Gaucher disease. Scand J Clin Lab Invest. 2017; 77(4):275-282.
Stirnemann J, Belmatoug N, Vincent C, et al. Bone events and evolution of biologic mark- ers in Gaucher disease before and during treatment. Arthritis Res Ther. 2010;12(4): R156.
Boven LA, van Meurs M, Boot RG, et al. Gaucher cells demonstrate a distinct macrophage phenotype and resemble alter- natively activated macrophages. Am J Clin Pathol. 2004;122(3):359-369.
50.Gordon S. Alternative activation of macrophages. Nat Rev Immunol 2003;3(1): 23-35.
51. Mantovani A, Sica A, Sozzani S, et al. The chemokine system in diverse forms of macrophage activation and polarization. Trends Immunol. 2004;25(12):677-686.
52. Rolfs A, Giese AK, Grittner U, et al. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnos- tic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013;8(11): e79732.
53. Gelb MH. Newborn screening for lysosomal storage diseases: methodologies, screen pos- itive rates, normalization of datasets, sec- ond-tier tests, and post-analysis tools. Int J Neonatal Screen. 2018;4(3).
54. Charrow J, Scott CR. Long-term treatment outcomes in Gaucher disease. Am J Hematol. 2015;90(Suppl 1):S19-24.
55. Hollak CE, Maas M, Aerts JM. Clinically rel- evant therapeutic endpoints in type I Gaucher disease. J Inherit Metab Dis. 2001;24(Suppl 2):S97-105.
56. Shemesh E, Deroma L, Bembi B, et al. Enzyme replacement and substrate reduc- tion therapy for Gaucher disease. Cochrane Database Syst Rev. 2015;3:CD010324.
57. Sims KB, Pastores GM, Weinreb NJ, et al. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month lon- gitudinal cohort study. Clin Genet. 2008; 73(5):430-440.
58. Weinreb NJ, Cappellini MD, Cox TM, et al. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet Med. 2010;12(1):44-51.
59. Johnston BC, Miller PA, Agarwal A, et al. Limited responsiveness related to the mini- mal important difference of patient-reported outcomes in rare diseases. J Clin Epidemiol. 2016;79(11):10-21.
60. Leeflang MM, Deeks JJ, Gatsonis C, et al. Systematic reviews of diagnostic test accura- cy. Ann Intern Med. 2008;149(12):889-897.
haematologica | 2021; 106(2)
445