Reduction of plasma globotriaosylsphingosine levels after switching from agalsidase alfa to agalsidase beta as enzyme replacement therapy for fabry disease

JIMD Reports

Volumn 25, Issue , 2016, Pages 95-106

  Goker Alpan, Ozlem ^a   Gambello, Michael J ^b   Maegawa, Gustavo H B ^c   Nedd, Khan J ^d   Gruskin, Daniel J ^e   Blankstein, Larry ^e   Weinreb, Neal J ^f  

^a Center for Clinical Trials O and O Alpan   (United States)

^b EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Grand Rapids   (United States)

^e GENZYME CORPORATION   (United States)

^f University Research Foundation for Lysosomal Storage Diseases   (United States)

Author keywords

Agalsidase alfa; Agalsidase beta; Enzyme replacement therapy; Fabry disease; Fabry disease patient

Indexed keywords

EID: 85019162111     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_483     Document Type: Chapter

References (57)

1. Aerts JM, Groener JE, Kuiper S et al (2008) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105:2812–2817
2. Barbey F, Brakch N, Linhart A et al (2006) Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition. Arterioscler Thromb Vasc Biol 26:839–844
3. Barbey F, Lidove O, Schwarting A (2008) Fabry nephropathy: 5 years of enzyme replacement therapy – a short review. NDT Plus 1:11–19
4. Biegstraaten M, Hollak CE, Bakkers M, Faber CG, Aerts JM, van Schaik IN (2012) Small fiber neuropathy in Fabry disease. Mol Genet Metab 106:135–141
5. Blanch LC, Meaney C, Morris CP (1996) A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene. Hum Mutat 8:38–43
6. Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM (2003) Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am J Hum Genet 72:23–31
7. Chambless LE, Folsom AR, Clegg LX et al (2000) Carotid wall thickness is predictive of incident clinical stroke: the Atherosclerosis Risk in Communities (ARIC) study. Am J Epidemiol 151:478–487
8. Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL (2013) Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4 +919G>A mutation. J Inherit Metab Dis 36:881–885
9. Clarke JT, West ML, Bultas J, Schiffmann R (2007) The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease. Genet Med 9:504–509
10. DeGraba T, Azhar S, Dignat-George F et al (2000) Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol 47:229–233
11. Desnick RJ (2004) Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther 4:1167–1176
12. Desnick RJ, Schuchman EH (2012) Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. Annu Rev Genomics Hum Genet 13: 307–335
13. Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ (1993) Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. Am J Hum Genet 53:1186–1197
14. Eng CM, Niehaus DJ, Enriquez AL, Burgert TS, Ludman MD, Desnick RJ (1994) Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. Hum Mol Genet 3:1795–1799
15. Eng CM, Ashley GA, Burgert TS, Enriquez AL, D’Souza M, Desnick RJ (1997) Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes. Mol Med 3:174–182
16. Eng CM, Guffon N, Wilcox WR et al (2001) Safety and efficacy of recombinant human alpha-galactosidase A – replacement therapy in Fabry’s disease. N Engl J Med 345:9–16
17. Eng CM, Fletcher J, Wilcox WR et al (2007) Fabry disease: baseline characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis 30:184–192
18. Fabrazyme® Summary of product characteristics, last updated October 2014. http://www.ema.europa.eu/docs/en_GB/document_library/EPAR_-_Product_Information/human/000370/WC500020547. pdf. Accessed 23 Jul 2015
19. Fabrazyme® Prescribing information, last updated May 2010. http://www.fabrazyme.com/hcp/pi/fz_us_hc_pi.pdf. Accessed 23 Jul 2015
20. Ferraz MJ, Kallemeijn WW, Mirzaian M et al (2014) Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses. Biochim Biophys Acta 1841:811–825
21. Germain DP (2010) Fabry disease. Orphanet J Rare Dis 5:30
22. Hopkin RJ, Bissler J, Banikazemi M et al (2008) Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64:550–555
23. Keslová-Veselíková J, Hůlková H, Dobrovolný R et al (2008) Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients. Virchows Arch 452:651–665
24. Lee K, Jin X, Zhang K et al (2003) A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13: 305–313
25. Lee BH, Heo SH, Kim GH et al (2010) Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J Hum Genet 55:512–517
26. Lenders M, Stypmann J, Duning T, Schmitz B, Brand SM, Brand E (2015) Serum-mediated inhibition of enzyme replacement therapy in Fabry disease. J Am Soc Nephrol. pii: ASN.2014121226 (Epub ahead of print)
27. Lin HY, Huang YH, Liao HC et al (2014) Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa. J Chin Med Assoc 77:190–197
28. Linthorst GE, Hollak CE, Donker-Koopman WE, Strijland A, Aerts JM (2004) Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66: 1589–1595
29. Meaney C, Blanch LC, Morris CP (1994) A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease. Hum Mol Genet 3:1019–1020
30. Nelson BC, Roddy T, Araghi S et al (2004) Globotriaosylceramide isoform profiles in human plasma by liquid chromatography-tandem mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 805:127–134
31. Niemann M, Rolfs A, Störk S et al (2014) Gene mutations versus clinically relevant phenotypes: lyso-Gb3 defines Fabry disease. Circ Cardiovasc Genet 7:8–16
32. Park S, Kim JA, Joo KY et al (2011) Globotriaosylceramide leads to K(Ca)3.1 channel dysfunction: a new insight into endothelial dysfunction in Fabry disease. Cardiovasc Res 89:290–299
33. Pisani A, Spinelli L, Visciano B et al (2013) Effects of switching from agalsidase beta to agalsidase alfa in 10 patients with Anderson-Fabry disease. JIMD Rep 9:41–48
34. Replagal® Summary of product characteristics, last updated September 2014. http://www.ema.europa.eu/docs/en_GB/document_li-brary/EPAR_-_Product_Information/human/000369/WC500053612.pdf. Accessed 23 Jul 2015
35. Roddy TP, Nelson BC, Sung CC et al (2005) Liquid chromatography-tandem mass spectrometry quantification of globotriaosylceramide in plasma for long-term monitoring of Fabry patients treated with enzyme replacement therapy. Clin Chem 51:237–240
36. Rombach SM, Dekker N, Bouwman MG et al (2010) Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 1802: 741–748
37. Rombach SM, van den Bogaard B, de Groot E et al (2012) Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine. Hypertension 60:998–1005
38. Sakuraba H, Murata-Ohsawa M, Kawashima I et al (2006) Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J Hum Genet 51:180–188
39. Sanchez-Niño MD, Sanz AB, Carrasco S et al (2011) Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy. Nephrol Dial Transplant 26:1797–1802
40. Schaefer RM, Tylki-Szymańska A, Hilz MJ (2009) Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 69:2179–2205
41. Schellekens H (2008) The immunogenicity of therapeutic proteins and the Fabry antibody standardization initiative. Clin Ther 30(Suppl B):S50–S51
42. Schiffmann R, Murray GJ, Treco D et al (2000) Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 97:365–370
43. Schiffmann R, Martin RA, Reimschisel T et al (2010) Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J Pediatr 156:832–837
44. Shabbeer J, Yasuda M, Benson SD, Desnick RJ (2006) Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations. Hum Genomics 2:297–309
45. Shen JS, Meng XL, Moore DF et al (2008) Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab 95:163–168
46. Sirrs SM, Bichet DG, Casey R et al (2014) Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab 111:499–506
47. Smid BE, Rombach SM, Aerts JM et al (2011) Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients. Orphanet J Rare Dis 6:69
48. Togawa T, Kodama T, Suzuki T et al (2010) Plasma globotriaosylsphingosine as a biomarker of Fabry disease. Mol Genet Metab 100:257–261
49. Togawa T, Takada M, Aizawa Y, Tsukimura T, Chiba Y, Sakuraba H (2014) Comparative study on mannose 6-phosphate residue contents of recombinant lysosomal enzymes. Mol Genet Metab 111:369–373
50. Tøndel C, Bostad L, Larsen KK et al (2013) Agalsidase benefits renal histology in young patients with Fabry disease. J Am Soc Nephrol 24:137–148
51. Topaloglu AK, Ashley GA, Tong B et al (1999) Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease. Mol Med 5:806–811
52. Tsuboi K, Yamamoto H (2014) Clinical course of patients with Fabry disease who were switched from agalsidase-b to agalsidase-∝. Genet Med 16:766–772
53. van Breemen MJ, Rombach SM, Dekker N et al (2011) Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy. Biochim Biophys Acta 1812:70–76
54. Vedder AC, Linthorst GE, Houge G et al (2007) Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg. PLoS One 2: e598
55. Warnock DG, Mauer M (2014) Fabry disease: dose matters. J Am Soc Nephrol 25:653–655
56. Weidemann F, Kramer J, Duning T et al (2014) Patients with Fabry disease after enzyme replacement therapy dose reduction versus treatment switch. J Am Soc Nephrol 25:837–849
57. Wilcox WR, Banikazemi M, Guffon N et al (2004) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75:65–74