Agalsidase alfa for enzyme-replacement therapy in Fabry disease

Expert Review of Endocrinology and Metabolism

Volumn 5, Issue 5, 2010, Pages 641-652

  Mehta, Atul ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

agalsidase alfa; clinical benefit; enzyme replacement therapy; Fabry disease

Indexed keywords

AGALSIDASE ALFA;

CLINICAL EFFECTIVENESS; CLINICAL TRIAL; DRUG EFFICACY; DRUG METABOLISM; DRUG SAFETY; DRUG TOLERABILITY; ENZYME REPLACEMENT; FABRY DISEASE; HEALTH SURVEY; HUMAN; OUTCOME ASSESSMENT; PAIN ASSESSMENT; POSTMARKETING SURVEILLANCE; PRIORITY JOURNAL; QUALITY OF LIFE; REVIEW;

EID: 77956796385     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/eem.10.46     Document Type: Review

References (102)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabrys disease. Ceramidetrihexosidase deficiency. N. Engl. J. Med. 276, 1163-1167 (1967).
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 281, 249-254 (1999).
3. Spada M, Pagliardini S, Yasuda M et al. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet. 79, 31-40 (2006).
4. Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG. Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte alpha-galactosidase activity and an NcoI polymorphism detected by an alpha-galactosidase cDNA clone. J. Med. Genet. 28, 232-240 (1991).
5. Pintos-Morell G, Beck M. Fabry disease in children and the effects of enzyme replacement treatment. Eur. J. Pediatr. 168, 1355-1363 (2009).
6. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabrys disease. Arch. Ophthalmol. 97, 671-676 (1979).
7. Kelly B, Kelly E. Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. Arch. Dermatol. 142, 615-618 (2006).
8. Warnock DG, West ML. Diagnosis and management of kidney involvement in Fabry disease. Adv. Chronic Kidney Dis. 13, 138-147 (2006).
9. Kampmann C, Linhart A, Baehner F et al. Onset and progression of the Anderson- Fabry disease related cardiomyopathy. Int. J. Cardiol. 130, 367-373 (2008).
10. Schiffmann R, Ries M. Fabrys disease - an important risk factor for stroke. Lancet 366, 1754-1756 (2005).
11. Mehta A, Clarke JT, Giugliani R et al. Natural course of Fabry disease: changing pattern of causes of death in FOS -Fabry Outcome Survey. J. Med. Genet. 46, 548-552 (2009).
12. Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry. Genet. Med. 11, 790-796 (2009).
13. Schiffmann R. Fabry disease. Pharmacol. Ther. 122, 65-77 (2009).
14. Zarate YA, Hopkin RJ. Fabrys disease. Lancet 372, 1427-1435 (2008).
15. Gibas AL, Klatt R, Johnson J, Clarke JT, Katz J. Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. J. Genet. Couns. 17, 528-537 (2008).
16. Wang RY, Lelis A, Mirocha J, Wilcox WR. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet. Med. 9, 34-45 (2007).
17. Whybra C, Kampmann C, Willers I et al. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J. Inherit. Metab. Dis. 24, 715-724 (2001).
18. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 38, 769-775 (2001). (Pubitemid 33032933)
19. Thadhani R, Wolf M, West ML et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 61, 249-255 (2002). (Pubitemid 34075152)
20. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry registry. Stroke 40, 788-794 (2009).
21. Wilcox WR, Oliveira JP, Hopkin RJ et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol. Genet. Metab. 93, 112-128 (2008).
22. Ortiz A, Cianciaruso B, Cizmarik M et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol. Dial. Transplant. 25, 769-775 (2010).
23. Maier EM, Osterrieder S, Whybra C et al. Disease manifestations and X inactivation in heterozygous females with Fabry disease. Acta Paediatr. Suppl. 95, 30-38 (2006). (Pubitemid 43739092)
24. Dobyns WB. The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr. Suppl. 95, 11-15 (2006).
25. Fan JQ. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol. Chem. 389, 1-11 (2008).
26. Schiffmann R, Germain DP, Castelli J, Shenker A, Lockhart DJ. Phase 2 clinical trials of the pharmacological chaperone AT1001 for the treatment of Fabry disease. Proceedings of the 58th Annual Meeting of the American Society of Human Genetics (ASFG) Philadelphia, PA, USA (2008).
27. Elstein D, Hollak C, Aerts JM et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J. Inherit. Metab. Dis. 27, 757-766 (2004).
28. Heare T, Alp NJ, Priestman DA et al. Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J. Inherit. Metab. Dis. 30, 79-87 (2007).
29. Abe A, Gregory S, Lee L et al. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation. J. Clin. Invest. 105, 1563-1571 (2000).
30. Beck M. Agalsidase a for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin. Biol. Ther. 9, 255-261 (2009).
31. Lee K, Jin X, Zhang K et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13, 305-313 (2003).
32. Miyamura N, Araki E, Matsuda K et al. A carboxy-terminal truncation of human a-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted. J. Clin. Invest. 98, 1809-1817 (1996).
33. Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human a-galactosidase. J. Mol. Biol. 337, 319-335 (2004).
34. Blom D, Speijer D, Linthorst GE, Donker-Koopman WG, Strijland A, Aerts JM. Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. Am. J. Hum. Genet. 72, 23-31 (2003).
35. Sakuraba H, Murata-Ohsawa M, Kawashima I et al. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J. Hum. Genet. 51, 180-188 (2006).
36. Schiffmann R, Kopp JB, Austin HA 3rd et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285, 2743-2749 (2001).
37. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol. Dial. Transplant. 21, 345-354 (2006).
38. Schiffmann R, Martin RA, Reimschisel T et al. Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. J. Pediatr. 156, 832-837, 837.e1 (2010).
39. Clarke JT, West ML, Bultas J, Schiffmann R. The pharmacology of multiple regimens of agalsidase a enzyme replacement therapy for Fabry disease. Genet. Med. 9, 504-509 (2007).
40. Vedder AC, Breunig F, Donker-Koopman WE et al. Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3. Mol. Genet. Metab. 94, 319-325 (2008).
41. Whybra C, Miebach E, Mengel E et al. A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet. Med. 11, 441-449 (2009).
42. Bekri S, Lidove O, Jaussaud R, Knebelmann B, Barbey F. The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature. Cardiovasc. Hematol. Agents Med. Chem. 4, 289-297 (2006).
43. Aerts JM, Groener JE, Kuiper S et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl Acad. Sci. USA 105, 2812-2817 (2008).
44. Rombach SM, Dekker N, Bouwman MG et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim. Biophys. Acta 1802(9), 741-748 (2010).
45. Ries M, Clarke JT, Whybra C et al. Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase a in children and adolescents. J. Clin. Pharmacol. 47, 1222-1230 (2007).
46. Hughes DA, Elliott PM, Shah J et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase a. Heart 94, 153-158 (2008).
47. Baehner F, Kampmann C, Whybra C, Miebach E, Wiethoff CM, Beck M. Enzyme replacement therapy in heterozygous females with Fabry disease: results of a Phase IIIB study. J. Inherit. Metab. Dis. 26, 617-627 (2003).
48. Ries M, Clarke JT, Whybra C et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118, 924-932 (2006).
49. Schiffmann R, Floeter MK, Dambrosia JM et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28, 703-710 (2003).
50. West M, Nicholls K, Mehta A et al. Agalsidase a and kidney dysfunction in Fabry disease. J. Am. Soc. Nephrol. 20, 1132-1139 (2009).
51. Cleeland CS, Ryan KM. Pain assessment: global use of the Brief Pain Inventory. Ann. Acad. Med. Singapore 23, 129-138 (1994).
52. Kampmann C, Linhart A, Devereux RB, Schiffmann R. Effect of agalsidase a replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. Clin. Ther. 31, 1966-1976 (2009).
53. de Simone G, Daniels SR, Devereux RB et al. Left ventricular mass and body size in normotensive children and adults: assessment of allometric relations and impact of overweight. J. Am. Coll. Cardiol. 20, 1251-1260 (1992).
54. Ramaswami U, Wendt S, Pintos-Morell G et al. Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr. 96, 122-127 (2007).
55. Beck M, Ricci R, Widmer U et al. Fabry disease: overall effects of agalsidase a treatment. Eur. J. Clin. Invest. 34, 838-844 (2004)
56. Schwarting A, Dehout F, Feriozzi S, Beck M, Mehta A, Sunder-Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin. Nephrol. 66, 77-84 (2006).
57. Feriozzi S, Schwarting A, Sunder- Plassmann G, West M, Cybulla M. Agalsidase a slows the decline in renal function in patients with Fabry disease. Am. J. Nephrol. 29, 353-361 (2009).
58. Mehta A, Beck M, Elliott P et al. Enzyme replacement therapy with agalsidase alfa in patients with Fabrys disease: an analysis of registry data. Lancet 374, 1986-1996 (2009); erratum in: Lancet 375, 200 (2010).
59. Schiffmann R, Warnock DG, Banikazemi M et al. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol. Dial. Transplant. 24, 2102-2111 (2009).
60. Levey AS. Clinical practice. Nondiabetic kidney disease. N. Engl. J. Med. 347, 1505-1511 (2002).
61. Branton MH, Schiffmann R, Sabnis SG et al. Natural history of Fabry renal disease: influence of a-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81, 122-138 (2002).
62. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R. Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J. Med. Genet. 42, 247-252 (2005).
63. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A. Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy - a retrospective analysis from the Fabry Outcome Survey. Clin. J. Pain 23, 535-542 (2007).
64. The EuroQol Group. EuroQol - a new facility for the measurement of health-related quality of life. Health Policy 16, 199-208 (1990).
65. Miners AH, Holmes A, Sherr L, Jenkinson C, MacDermot KD. Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention. Qual. Life Res. 11, 127-133 (2002).
66. Gold KF, Pastores GM, Botteman MF et al. Quality of life of patients with Fabry disease. Qual. Life Res. 11, 317-327 (2002).
67. Street NJ, Yi MS, Bailey LA, Hopkin RJ. Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genet. Med. 8, 346-353 (2006).
68. Hoffmann B, Schwarz M, Mehta A, Keshav S. Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin. Gastroenterol. Hepatol. 5, 1447-1453 (2007).
69. Thofehrn S, Netto C, Cecchin C et al. Kidney function and 24-hour proteinuria in patients with Fabry disease during 36 months of agalsidase alfa enzyme replacement therapy: a Brazilian experience. Ren. Fail. 31, 773-778 (2009).
70. Vedder AC, Linthorst GE, Houge G et al. 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 (2007).
71. Schiffmann R, Hauer P, Freeman B et al. Enzyme replacement therapy and intraepidermal innervation density in Fabry disease. Muscle Nerve 34, 53-56 (2006).
72. Jardim LB, Gomes I, Netto CB et al. Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease. J. Inherit. Metab. Dis. 29, 653-659 (2006).
73. Moore DF, Scott LT, Gladwin MT et al. Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy. Circulation 104, 1506-1512 (2001).
74. Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol. 2, 4 (2002).
75. Moore DF, Altarescu G, Ling GS et al. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke 33, 525-531 (2002).
76. Jardim L, Vedolin L, Schwartz IV et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J. Inherit. Metab. Dis. 27, 229-240 (2004).
77. Jardim LB, Aesse F, Vedolin LM et al. White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. Arq. Neuropsiquiatr. 64, 711-717 (2006).
78. Hajioff D, Enever Y, Quiney R, Zuckerman J, Mackermot K, Mehta A. Hearing loss in Fabry disease: the effect of agalsidase a replacement therapy. J. Inherit. Metab. Dis. 26, 787-794 (2003). (Pubitemid 38139379)
79. Palla A, Hegemann S, Widmer U, Straumann D. Vestibular and auditory deficits in Fabry disease and their response to enzyme replacement therapy. J. Neurol. 254, 1433-1442 (2007).
80. Dehout F, Roland D, Treille de Granseigne S, Guillaume B, Van Maldergem L. Relief of gastrointestinal symptoms under enzyme replacement therapy in patients with Fabry disease. J. Inherit. Metab. Dis. 27, 499-505 (2004).
81. Whybra C, Kampmann C, Krummenauer F et al. The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin. Genet. 65, 299-307 (2004).
82. Parini R, Rigoldi M, Santus F et al. Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index. Clin. Genet. 74, 260-266 (2008).
83. Cousins A, Lee P, Rorman D et al. Home-based infusion therapy for patients with Fabry disease. Br. J. Nurs. 17, 653-657 (2008).
84. Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A. Intravenous enzyme replacement therapy: better in home or hospital? Br. J. Nurs. 15, 330-333 (2006).
85. Hughes DA, Milligan A, Mehta A. Home therapy for lysosomal storage disorders. Br. J. Nurs. 16, 1384-1389 (2007).
86. Schiffmann R, Murray GJ, Treco D et al. Infusion of a-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc. Natl. Acad. Sci. USA 97, 365-370 (2000).
87. Weidemann F, Niemann M, Breunig F et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119, 524-529 (2009).
88. Martins AM, DAlmeida V, Kyosen SO et al. Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences. J. Pediatr. 155, S19-S31 (2009).
89. Wilcox WR, Banikazemi M, Guffon N et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am. J. Hum. Genet. 75, 65-74 (2004).
90. Lidove O, West ML, Pintos-Morell G et al. Effects of enzyme replacement therapy in Fabry disease - a comprehensive review of the medical literature. Genet. Med. (2010) (In press).
91. Schiffmann R, Askari H, Timmons M et al. Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J. Am. Soc. Nephrol. 18, 1576-1583 (2007).
92. Eng CM, Guffon N, Wilcox WR et al. Safety and efficacy of recombinant human a-galactosidase A - replacement therapy in Fabrys disease. N. Engl. J. Med. 345, 9-16 (2001).
93. Germain DP, Waldek S, Banikazemi M et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J. Am. Soc. Nephrol. 18, 1547-1557 (2007).
94. Banikazemi M, Bultas J, Waldek S et al. Agalsidase-b therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med. 146, 77-86 (2007).
95. Sirrs S, Clarke JT, Bichet DG et al. Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol. Genet. Metab. 99, 367-373 (2009).
96. Tahir H, Jackson LL, Warnock DG. Antiproteinuric therapy and Fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-b. J. Am. Soc. Nephrol. 18, 2609-2617 (2007).
97. Rohard I, Schaefer E, Kampmann C, Beck M, Gal A. Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease. J. Inherit. Metab. Dis. DOI: 10.1007/s10545-008-0920-z (2008) (Epub ahead of print).
98. Hoffmann B. Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. Orphanet J. Rare Dis. 4, 21 (2009)
99. ® - summary of product characteristics. European Medicines Agency www.emea.europa.eu/humandocs/ Humans/EPAR/replagal/replagal.htm
100. Clarke LA, Clarke JT, Sirrs S et al. Fabry disease: recommendations for diagnosis, management, and enzyme replacement therapy in Canada www.garrod.ca/pdf-files/canadian%20 Fabry%guidelines%20%20november%20 2005.doc
101. Hughes DA, Ramaswami U, Elliot P et al. Guidelines for the diagnosis and management of Anderson-Fabry disease. National Commissioning Group of the National Health Service www.dh.gov.uk/prod-consum-dh/groups/ dh-digitalassets/@dh/@en/documents/ digitalasset/dh-4118408.pdf
102. Preliminary results from the Canadian Fabry Disease Initiative www.cihr-irsc.gc.ca/e/39586.html#tphp