Agalsidase-beta therapy for advanced fabry disease: A randomized trial

Annals of Internal Medicine

Volumn 146, Issue 2, 2007, Pages 77-86

  Banikazemi, Maryam ^b,l   Bultas, Jan ^c,l   Waldek, Stephen ^d,l   Wilcox, William R ^e,l   Whitley, Chester B ^f,l   McDonald, Marie ^g,l   Finkel, Richard ^h,l   Packman, Seymour ^i,l   Bichet, Daniel G ^j,l   Warnock, David G ^k,l   Desnick, Robert J ^a,l   Barranger, John A ^l   Bodensteiner, David ^l   Bushinsky, David ^l   Charrow, Joel ^l   Eng, Christine M ^l   Erbe, Richard W ^l   Fernhoff, Paul ^l   Greenstein, Robert M ^l   Grubits, János ^l   Hopkin, Robert J ^l   Ronald Scott, C ^l   Sims, Katherine B ^l   Tylki Szymanska, Anna ^l   Weinreb, Neal ^l   West, Michael L ^l   Wyatt, Philip ^l   Abichandani, Rekha ^l   Burke, Amy ^l   Cintron, Rebecca ^l   Fitzgerald, Laura ^l   Goldberg, Mark ^l   Horgan, Eilleen ^l   Mackey, Donna ^l   Moscicki, Richard ^l   O'Brien, Fanny ^l   Richards, Sue ^l   Tandon, P K ^l   Sung, Crystal C C ^l   Welch, Karen ^l   more..

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY   (United States)

^c CHARLES UNIVERSITY   (Czech Republic)

^d HOPE HOSPITAL   (United Kingdom)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f Institute of Human Genetics   (United States)

^g DUKE UNIVERSITY MEDICAL CENTER   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^k University of Alabama at Birmingham   (United States)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE BETA; ANTIHISTAMINIC AGENT; CREATININE; IBUPROFEN; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G ANTIBODY; PARACETAMOL; PLACEBO; ALPHA GALACTOSIDASE; ISOENZYME;

ADULT; ANAPHYLAXIS; ANGINA PECTORIS; ANTIBODY TITER; ARTICLE; CAUSE OF DEATH; CLINICAL TRIAL; CONFIDENCE INTERVAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; COUGHING; CREATININE BLOOD LEVEL; DEATH; DISEASE SEVERITY; DOUBLE BLIND PROCEDURE; DRUG DOSE INCREASE; DRUG FEVER; DRUG INDUCED HEADACHE; DRUG WITHDRAWAL; FABRY DISEASE; FATIGUE; FEMALE; GLOMERULUS FILTRATION RATE; HAZARD RATIO; HEALTH CENTER; HEART ARREST; HEART INFARCTION; HUMAN; HYPERTENSION; HYPOTENSION; IMMUNOGLOBULIN BLOOD LEVEL; INJECTION SITE REACTION; KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; OPEN STUDY; PATIENT COMPLIANCE; PREMEDICATION; PRIORITY JOURNAL; PROTEINURIA; RANDOMIZED CONTROLLED TRIAL; RHINITIS; RIGOR; SIDE EFFECT; SKIN TEST; STATISTICAL SIGNIFICANCE; STROKE; TEMPERATURE SENSE; THORAX PAIN; TRANSIENT ISCHEMIC ATTACK; TREATMENT DURATION; TREATMENT OUTCOME; URTICARIA; VOMITING; AGED; CARDIOVASCULAR DISEASE; CEREBROVASCULAR DISEASE; DISEASE COURSE; KIDNEY DISEASE; MIDDLE AGED; PATHOPHYSIOLOGY;

ADULT; AGED; ALPHA-GALACTOSIDASE; CARDIOVASCULAR DISEASES; CEREBROVASCULAR DISORDERS; DISEASE PROGRESSION; DOUBLE-BLIND METHOD; FABRY DISEASE; FEMALE; GLOMERULAR FILTRATION RATE; HUMANS; ISOENZYMES; KIDNEY DISEASES; MALE; MIDDLE AGED; PROTEINURIA; TREATMENT OUTCOME;

EID: 33846908304     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-146-2-200701160-00148     Document Type: Article

References (47)

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. Vol 3. New York: McGraw-Hill; 2001:3733-74.
2. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med. 2003;138:338-46. [PMID: 12585833]
3. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G, et al. Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore). 2002;81: 122-38. [PMID: 11889412]
4. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet. 2001;38:750-60. [PMID: 11694547]
5. Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Thölen H. Angiokeratoma corporis diffusum—Fabry’s disease. Helv Med Acta. 1967;34:67-83. [PMID: 5592081]
6. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females [Letter]. J Med Genet. 2001;38:769-75. [PMID: 11732485]
7. Tsakiris D, Simpson HK, Jones EH, Briggs JD, Elinder CG, Mendel S, et al. Report on management of renale failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA Registry. Nephrol Dial Transplant. 1996;11 Suppl 7:4-20. [PMID: 9067983]
8. Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61: 249-55. [PMID: 11786107]
9. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hübner G, Olsen EG, et al. An atypical variant of Fabry’s disease with manifestations confined to the myocardium. N Engl J Med. 1991;324:395-9. [PMID: 1846223]
10. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 1995;333:288-93. [PMID: 7596372]
11. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 2003;64:801-7. [PMID: 12911529]
12. Eng CM, Banikazemi M, Gordon RE, 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. 2001;68:711-22. [PMID: 11179018]
13. Eng CM, Guffon N, Wilcox WR, Germain DP, 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. 2001;345:9-16. [PMID: 11439963]
14. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int. 2002;62:1933-46. [PMID: 12427118]
15. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet. 2004;75:65-74. [PMID: 15154115]
16. Thurberg BL, Randolph Byers H, Granter SR, Phelps RG, Gordon RE, O’Callaghan M. Monitoring the 3-year efficacy of enzyme replacement therapy in Fabry disease by repeated skin biopsies. J Invest Dermatol. 2004;122:900-8. [PMID: 15102080]
17. Stevens LA, Coresh J, Greene T, Levey AS. Assessing kidney function— measured and estimated glomerular filtration rate. N Engl J Med. 2006;354: 2473-83. [PMID: 16760447]
18. Braunwald E, Antman EM, Beasley JW, Califf RM, Cheitlin MD, Hochman JS, et al. ACC/AHA guidelines for the management of patients with unstable angina and non-ST-segment elevation myocardial infarction. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Committee on the Management of Patients With Unstable Angina). J Am Coll Cardiol. 2000;36:970-1062. [PMID: 10987629]
19. O’Brien PC, Fleming TR. A multiple testing procedure for clinical trials. Biometrics. 1979;35:549-56. [PMID: 497341]
20. Schiffmann R, Kopp JB, Austin H, Moore DF, Sabnis S, Weibel T, et al. Efficacy and safety of enzyme replacement therapy for Fabry disease demonstrated by a double-blind placebo-controlled trial [Abstract]. Presented at the American Society of Human Genetics Annual Meeting, Philadelphia, Pennsylvania, 3-7 October 2000:Abstract 135.
21. Gould AL, Shih WJ. Modifying the design of ongoing trials without unblinding. Stat Med. 1998;17:89-100. [PMID: 9463852]
22. Kalbfleisch JD, Prentice RL. Relative risk (Cox) regression models. In: The Statistical Analysis of Failure Time Data. 2nd ed. Hoboken, NJ: J Wiley; 2002: 95-147.
23. Hosmer DW, Lemenshow S. Interpretation of a fitted proportional hazards regression model. In: Applied Survival Analysis: Regression Modeling of Time to Event Data. Hoboken, NJ: J Wiley; 1999:137-52.
24. Rothman KJ, Greenland S. Modern Epidemiology. 2nd ed. Philadelphia: Lippincott-Raven; 1998:256-8.
25. Fisher LD, van Belle G. Biostatistics: A Methodology for the Health Sciences. Hoboken, NJ: J Wiley; 1993.
26. Fleiss JL, Levin B, Paik MC. Comparative studies: cross-sectional, naturalistic, or multinomial sampling. In: Statistical Methods for Rates and Proportions. 3rd ed. Hoboken, NJ: J Wiley; 2003.
27. World Health Organization Adverse Reaction Terminology (WHO-ART). Uppsala, Sweden: World Health Organization Collaborating Centre for International Drug Monitoring, Uppsala Monotoring Centre; 1993. Available at www.umc-products.com/DynPage.aspx?id_4918&mn_1107. Accessed on 15 November 2006.
28. U.S. Food and Drug Administration Center for Drug Evaluation and Research. Endocrinologic and Metabolic Advisory Committee. Transcript of 13 January 2003 Meeting. Accessed at www.fda.gov/ohrms/dockets/ac/03 /transcripts/3917T1.pdf on 10 October 2006.
29. De Schoenmakere G, Chauveau D, Grünfeld JP. Enzyme replacement therapy in Anderson-Fabry’s disease: beneficial clinical effect on vital organ function. Nephrol Dial Transplant. 2003;18:33-5. [PMID: 12480957]
30. Waldek S. PR interval and the response to enzyme-replacement therapy for Fabry’s disease [Letter]. N Engl J Med. 2003;348:1186-7. [PMID: 12646684]
31. 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. 2003;108:1299-301. [PMID: 12952834]
32. Hilz MJ, Brys M, Marthol H, Stemper B, Dütsch M. Enzyme replacement therapy improves function of C-, Aδ-, and Aβ-nerve fibers in Fabry neuropathy. Neurology. 2004;62:1066-72. [PMID: 15079003]
33. Guffon N, Fouilhoux A. Clinical benefit in Fabry patients given enzyme replacement therapy—a case series. J Inherit Metab Dis. 2004;27:221-7. [PMID: 15159653]
34. Mignani R, Panichi V, Giudicissi A, Taccola D, Boscaro F, Feletti C, et al. Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study. Kidney Int. 2004;65:1381-5. [PMID: 15086478]
35. Spinelli L, Pisani A, Sabbatini M, Petretta M, Andreucci MV, Procaccini D, et al. Enzyme replacement therapy with agalsidase beta improves cardiac involvement in Fabry’s disease. Clin Genet. 2004;66:158-65. [PMID: 15253767]
36. Banikazemi M, Ullman T, Desnick RJ. Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab. 2005;85:255-9. [PMID: 15939645]
37. Pisani A, Spinelli L, Sabbatini M, Andreucci MV, Procaccini D, Abbaterusso C, et al. Enzyme replacement therapy in Fabry disease patients undergoing dialysis: effects on quality of life and organ involvement. Am J Kidney Dis. 2005;46:120-7. [PMID: 15983965]
38. Breunig F, Weidemann F, Strotmann J, Knoll A, Wanner C. Clinical benefit of enzyme replacement therapy in Fabry disease. Kidney Int. 2006;69: 1216-21. [PMID: 16609685]
39. Elleder M, Poupětová H, Kožich V. [Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I]. Cesk Patol. 1998;34:7-12. [PMID: 9560877]
40. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002;113:112-9. [PMID: 12133749]
41. Segura J, Campo C, Ruilope LM. Proteinuria: an underappreciated risk factor in cardiovascular disease. Curr Cardiol Rep. 2002;4:458-62. [PMID: 12379163]
42. Segura J, Campo C, Ruilope LM. Effect of proteinuria and glomerular filtration rate on cardiovascular risk in essential hypertension. Kidney Int Suppl. 2004:S45-9. [PMID: 15485417]
43. Shahinfar S, Dickson T, Zhang Z, Keane WF, Brenner BM. Baseline predictors of end-stage renal disease risk in patients with type 2 diabetes and nephropathy: new lessons from the RENAAL Study. Kidney Int Suppl. 2005: S48-51. [PMID: 15663528]
44. Grimm RH, Svendsen KH, Kasiske B, Keane WF, Wahi MM. Proteinuria is a risk factor for mortality over 10 years of follow-up. MRFIT Research Group. Multiple Risk Factor Intervention Trial. Kidney Int Suppl. 1997;63: S10-4. [PMID: 9407412]
45. de Zeeuw D, Remuzzi G, Parving HH, Keane WF, Zhang Z, Shahinfar S, et al. Proteinuria, a target for renoprotection in patients with type 2 diabetic nephropathy: lessons from RENAAL. Kidney Int. 2004;65:2309-20. [PMID: 15149345]
46. de Zeeuw D, Remuzzi G, Parving HH, Keane WF, Zhang Z, Shahinfar S, et al. Albuminuria, a therapeutic target for cardiovascular protection in type 2 diabetic patients with nephropathy. Circulation. 2004;110:921-7. [PMID: 15302780]
47. European Medicines Agency Committee for Medicinal Products for Human Use. Guidelines on clinical trials in small populations. London: European Medicines Agency; 2006. Accessed at www.emea.eu.int/pdfs/human/ewp /8356105en.pdf on 2 October 2006.