Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review;Efficacité clinique de l'enzymothérapie dans la maladie de Fabry. Analyse critique

Revue de Medecine Interne

Volumn 30, Issue 10, 2009, Pages 920-929

  Lidove, O ^a   Papo, T ^a  

^a BICHAT HOSPITAL   (France)

Author keywords

Clinical efficacy; Enzyme therapy; Fabry disease

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; ALPHA GALACTOSIDASE; PLACEBO;

ANALGESIA; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; DISEASE COURSE; DRUG EFFICACY; ENZYME REPLACEMENT; EUROPE; FABRY DISEASE; HEART DISEASE; HUMAN; KIDNEY DISEASE; LYSOSOME STORAGE DISEASE; MEDICAL LITERATURE; MEDICAL RESEARCH; PATIENT COMPLIANCE; QUALITY OF LIFE; RANDOMIZED CONTROLLED TRIAL; SHORT SURVEY; TREATMENT OUTCOME;

ALPHA-GALACTOSIDASE; ENZYME REPLACEMENT THERAPY; FABRY DISEASE; HUMANS; ISOENZYMES; RANDOMIZED CONTROLLED TRIALS AS TOPIC;

EID: 70349482517     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2009.04.003     Document Type: Short Survey

References (34)

1. Bekri S., Lidove O., Jaussaud R., Knebelmann B., and 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 (2006) 289-297
2. Lidove O., Bekri S., Goizet C., Khau Van Kien A., Aractingi S., Knebelmann B., et al. Fabry disease: proposed guidelines from a French expert group for its diagnosis, treatment and follow-up. Presse Med 36 (2007) 1084-1097
3. Lee K., Jin X., Zhang K., Copertino L., Andrews L., Baker-Malcolm J., et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13 (2003) 305-313
4. Desnick R.J. Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval. Expert Opin Biol Ther 4 (2004) 1167-1176
5. Eng C.M., Banikazemi M., Gordon R.E., Goldman M., Phelps R., Kim L., et al. A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68 (2001) 711-722
6. Eng C.M., Guffon N., Wilcox W.R., Germain D.P., Lee P., Waldek S., et al. Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease. N Engl J Med 345 (2001) 9-16
7. Wilcox W.R., Banikazemi M., Guffon N., Waldek S., Lee P., Linthorst G., et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75 (2004) 65-74
8. Germain D.P., Waldek S., Banikazemi M., Bushinsky D.A., Charrow J., Desnick R.J., et al. Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18 (2007) 1547-1557
9. Schiffmann R., Murray G.J., Treco D., Daniel P., Sellos-Moura M., Myers M., et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 97 (2000) 365-370
10. Schiffmann R., Kopp J.B., Austin III H.A., Sabnis S., Moore D.F., Weibel T., et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
11. Schiffmann R., Floeter M.K., Dambrosia J.M., Gupta S., Moore D.F., Sharabi Y., et al. Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28 (2003) 703-710
12. Branton M.H., Schiffmann R., Sabnis S.G., Murray G.J., Quirk J.M., Altarescu G., et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine 81 (2002) 122-138
13. Schiffmann R., Ries M., Timmons M., Flaherty J.T., and Brady R.O. Long-term therapy with agalsidase alpha for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 21 (2006) 345-354
14. Shankland S.J. The podocyte's response to injury: role in proteinuria and glomerulosclerosis. Kidney Int 69 (2006) 2131-2147
15. Weidemann F., Breunig F., Beer M., Sandstede J., Turschner O., Voelker W., et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation 108 (2003) 1299-1301
16. Kovacevic-Preradovic T., Zuber M., Jost C.H., Widmer U., Seifert B., Schulthess G., et al. Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 9 (2008) 729-735
17. Desnick R.J., Blieden L.C., Sharp H.L., Hofschire P.J., and Moller J.H. Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. Circulation 54 (1976) 818-825
18. Hughes D.A., Elliott P.M., Shah J., Zuckerman J., Coghlan G., Brookes 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 alpha. Heart 94 (2008) 153-158
19. Jardim L., Vedolin L., Schwartz I.V.D., Burin M.G., Cecchin C., Kalakun L., 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 (2004) 229-240
20. Hilz M.J., Brys M., Marthol H., Stemper B., and Dutsch M. Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy. Neurology 62 (2004) 1066-1072
21. Schwarting A., Dehout F., Feriozzi S., Beck M., Mehta A., and Sunder-Plassmann G. Enzyme replacement therapy and renal function in 201 patients with Fabry disease. Clin Nephrol 66 (2006) 77-84
22. Tahir H., Jackson L.L., and Warnock D.G. Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18 (2007) 2609-2617
23. Ries M., Clarke J.T., Whybra C., Timmons M., Robinson C., Schlaggar B.L., et al. Enzyme-replacement therapy with agalsidase alpha in children with Fabry disease. Pediatrics 118 (2006) 924-932
24. Tondel C., Bostad L., Hirth A., and Svarstad E. Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51 (2008) 767-776
25. Wraith J.E., Tylki-Szymanska A., Guffon N., Lien Y.H., Tsimaratos M., Vellodi A., et al. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 152 (2008) 563-570 [570 e1]
26. Beck M., Ricci R., Widmer U., Dehout F., de Lorenzo A.G., Kampmann C., et al. Fabry disease: overall effects of agalsidase alpha treatment. Eur J Clin Invest 34 (2004) 838-844
27. Hoffmann B., Garcia de Lorenzo A., Mehta A., Beck M., Widmer U., and 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 (2005) 247-252
28. Breunig F., Weidemann F., Strotmann J., Knoll A., and Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int 69 (2006) 1216-1221
29. Vedder A.C., Linthorst G.E., Houge G., Groener J.E., Ormel E.E., Bouma B.J., et al. Treatment of Fabry disease: outcome of a comparative trial with agalsidase alpha or beta at a dose of 0.2 mg/kg. PLoS ONE 2 (2007) e598
30. Vedder A.C., Breunig F., Donker-Koopman W.E., Mills K., Young E., Winchester B., et al. Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3. Mol Genet Metab (2008)
31. Banikazemi M., Bultas J., Waldek S., Wilcox W.R., Whitley C.B., McDonald M., et al. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146 (2007) 77-86
32. Germain D.P. Fabry disease: recent advances in enzyme replacement therapy. Expert Opin Investig Drugs 11 (2002) 1467-1476
33. Linthorst G.E., Hollak C.E., Donker-Koopman W.E., Strijland A., and Aerts J.M. Enzyme therapy for Fabry disease: neutralizing antibodies toward agalsidase alpha and beta. Kidney Int 66 (2004) 1589-1595
34. Whitfield P.D., Calvin J., Hogg S., O'Driscoll E., Halsall D., Burling K., et al. Monitoring enzyme replacement therapy in Fabry disease, role of urine globotriaosylceramide. J Inherit Metab Dis 28 (2005) 21-33