Overview

Fabry Disease

Volumn , Issue , 2010, Pages 381-388

  Beck, Michael ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Chaperone; Enzyme replacement therapy; Gene therapy; Limitation

Indexed keywords

EID: 84863494182     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-90-481-9033-1_24     Document Type: Chapter

References (25)

1. 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(1):9-16
2. Banikazemi M, Bultas J, Waldek S et al (2007) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2):77-86
3. 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(1):65-74
4. Weidemann F, Niemann M, Breunig F et al (2009) Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation 119(4):524-529
5. Schiffmann R, Kopp JB, Austin HA III et al (2001) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc 285(21):2743-2749
6. Beck M (2009) Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Exp Opin Biol Ther 9(2):255-261
7. West M, Nicholls K, Mehta A et al (2009) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20(5):1132-1139
8. Mehta A, Beck M, Elliott P et al (2009) Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data. Lancet 374(9706):1986-1996
9. Wang J, Lozier J, Johnson G et al (2008) Neutralizing antibodies to therapeutic enzymes: considerations for testing, prevention and treatment. Nat Biotechnol 26(8):901-908
10. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO (2006) Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21(2):345-354
11. Zhang XK, Elbin CS, Chuang WL et al (2008) Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry. Clin Chem 54(10):1725-1728
12. Spada M, Pagliardini S, Yasuda M et al (2006) High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31-40
13. West M, Le Moine K (2007) Effect of withdrawal of enzyme replacement therapy in Fabry disease. Acta Paediatrica 96(s455):105
14. Bernier V, Lagace M, Bichet DG, Bouvier M (2004) Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol Metab 15(5):222-228
15. Frustaci A, Chimenti C, Ricci R et al (2001) Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N Engl J Med 345(1):25-32
16. Yam GH, Zuber C, Roth J (2005) A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder. FASEB J 19(1):12-18
17. Ishii S, Chang HH, Yoshioka H et al (2009) Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease. J Pharmacol Exp Ther 328(3): 723-731
18. Benjamin ER, Flanagan JJ, Schilling A et al (2009) The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines. J Inherit Metab Dis 32(3):424-440
19. Schiffmann R, Germain DP, Castelli J, Shenker A, Lockhart DJ (eds) (2008) Phase 2 clinical trials of the pharmacological chaperone AT1001 for the treatment of Fabry disease. 58th annual meeting American Society of Human Genetics, Philadelphia, 11-15 Nov 2008
20. Sands MS, Davidson BL (2006) Gene therapy for lysosomal storage diseases. Mol Ther 13(5):839-849
21. Li C, Ziegler RJ, Cherry M et al (2002) Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease. Mol Ther 5(6): 745-754
22. Di Domenico C, Villani GR, Di Napoli D et al (2005) Gene therapy for a mucopolysacchari-dosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther 16(1):81-90
23. Follenzi A, Battaglia M, Lombardo A, Annoni A, Roncarolo MG, Naldini L (2004) Targeting lentiviral vector expression to hepatocytes limits transgene-specific immune response and establishes long-term expression of human antihemophilic factor IX in mice. Blood 103(10):3700-3709
24. Ogawa K, Hirai Y, Ishizaki M et al (2009) Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period. Mol Genet Metab 96(3):91-96
25. Takenaka T, Murray GJ, Qin G et al (2000) Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells. Proc Natl Acad Sci USA 97(13):7515-7520