Abstract
In the last years, much progress has been achieved in the field of lysosomal storage disorders. In the past no specific treatment was available for the affected patients, management mainly consisted of supportive care and treatment of complications. The situation promptly changed, however, when so-called orphan drug regulations, at first in the United States, thereafter also in Europe, heartened the pharmaceutical industry to develop drugs for rare disorders by providing the companies with commercial benefits, for example by giving marketing exclusivity for 10 years. And thereafter within a few years enzyme replacement therapy became available for the lysosomal storage disorders Gaucher disease, Fabry disease, mucopolysaccharidoses type I, II and VI and Pompe disease. In addition, new therapeutic drugs such as substrate inibitors and chaperones have been developed. This review will summarize the efficacy and limitations of enzyme replacement in Fabry disease. New therapeutic perspectives currently under preclinical investigations such as chaperone-mediated and gene therapy will also be discussed.
This is a preview of subscription content, log in via an institution.
Buying options
Tax calculation will be finalised at checkout
Purchases are for personal use only
Learn about institutional subscriptionsReferences
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
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
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
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
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
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
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
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
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
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
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
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
West M, Le Moine K (2007) Effect of withdrawal of enzyme replacement therapy in Fabry disease. Acta Paediatrica 96(s455):105
Bernier V, Lagace M, Bichet DG, Bouvier M (2004) Pharmacological chaperones: potential treatment for conformational diseases. Trends Endocrinol Metab 15(5):222–228
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
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
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
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
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
Sands MS, Davidson BL (2006) Gene therapy for lysosomal storage diseases. Mol Ther 13(5):839–849
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
Di Domenico C, Villani GR, Di Napoli D et al (2005) Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. Hum Gene Ther 16(1):81–90
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
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
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
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Netherlands
About this chapter
Cite this chapter
Beck, M. (2010). Overview. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_24
Download citation
DOI: https://doi.org/10.1007/978-90-481-9033-1_24
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-90-481-9032-4
Online ISBN: 978-90-481-9033-1
eBook Packages: MedicineMedicine (R0)