Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

Am J Hum Genet. 2004 Jul;75(1):65-74. doi: 10.1086/422366. Epub 2004 May 20.

Abstract

Elsewhere, we reported the safety and efficacy results of a multicenter phase 3 trial of recombinant human alpha -galactosidase A (rh-alpha GalA) replacement in patients with Fabry disease. All 58 patients who were enrolled in the 20-wk phase 3 double-blind, randomized, and placebo-controlled study received subsequently 1 mg/kg of rh-alpha GalA (agalsidase beta, Fabrazyme, Genzyme Corporation) biweekly in an ongoing open-label extension study. Evidence of long-term efficacy, even in patients who developed IgG antibodies against rh- alpha GalA, included the continuously normal mean plasma globotriaosylceramide (GL-3) levels during 30 mo of the extension study and the sustained capillary endothelial GL-3 clearance in 98% (39/40) of patients who had a skin biopsy taken after treatment for 30 mo (original placebo group) or 36 mo (original enzyme-treated group). The mean serum creatinine level and estimated glomerular filtration rate also remained stable after 30-36 mo of treatment. Infusion-associated reactions decreased over time, as did anti-rh- alpha GalA IgG antibody titers. Among seroconverted patients, after 30-36 mo of treatment, seven patients tolerized (no detectable IgG antibody), and 59% had > or =4-fold reductions in antibody titers. As of 30 mo into the extension trial, three patients were withdrawn from the study because of positive serum IgE or skin tests; however, all have been rechallenged successfully at the time of this report. Thus, enzyme replacement therapy for 30-36 mo with agalsidase beta resulted in continuously decreased plasma GL-3 levels, sustained endothelial GL-3 clearance, stable kidney function, and a favorable safety profile.

Publication types

  • Clinical Trial
  • Clinical Trial, Phase III
  • Comparative Study
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Biopsy
  • Capillaries / drug effects
  • Capillaries / metabolism
  • Double-Blind Method
  • Endothelium, Vascular / metabolism
  • Endothelium, Vascular / pathology
  • Fabry Disease / drug therapy*
  • Fabry Disease / enzymology*
  • Fabry Disease / pathology
  • Humans
  • Immunoglobulin E / blood
  • Isoenzymes / therapeutic use*
  • Kidney / blood supply
  • Kidney / pathology
  • Kidney Function Tests
  • Male
  • Metabolic Clearance Rate
  • Placebos
  • Recombinant Proteins / therapeutic use
  • Skin / blood supply
  • Skin / metabolism*
  • Skin / pathology
  • Trihexosylceramides / analysis
  • Trihexosylceramides / blood
  • Trihexosylceramides / metabolism*
  • alpha-Galactosidase / therapeutic use*

Substances

  • Isoenzymes
  • Placebos
  • Recombinant Proteins
  • Trihexosylceramides
  • Immunoglobulin E
  • globotriaosylceramide
  • alpha-Galactosidase
  • agalsidase beta