Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

J Am Soc Nephrol. 2007 May;18(5):1547-57. doi: 10.1681/ASN.2006080816. Epub 2007 Apr 4.

Abstract

Fabry disease, an inherited deficiency of the lysosomal enzyme alpha-galactosidase A, causes progressive intralysosomal accumulation of globotriaosylceramide (GL-3) and premature death from renal, cardiac, and cerebrovascular manifestations. To determine the long-term safety and efficacy of recombinant human alpha-galactosidase A, an open-label, phase III extension study was conducted, involving 58 patients who had classic Fabry disease and completed a 20-wk, double-blind, randomized, placebo-controlled, phase III study of agalsidase beta and were transitioned to an extension trial to receive biweekly 1 mg/kg agalsidase beta for up to an additional 54 mo. GL-3 accumulation was evaluated in the capillary endothelia of the skin, kidney, and heart. Renal function was assessed. By month 54, all patients with optional kidney biopsies (n = 8) maintained complete GL-3 clearance in renal capillary endothelial cells and multiple cell types. Continued, complete clearance of skin (31 of 36) and heart (six of eight) capillary endothelium was demonstrated. Mean plasma GL-3 levels remained decreased in the normal range. Median serum creatinine and estimated GFR remained stable (normal) in patients with renal data at month 54 (n = 41). Six patients had renal disease progression; most (four of six) were older than 40 yr and had significant proteinuria at baseline and evidence of sclerotic glomeruli pretreatment. Adverse events were generally mild and unrelated to treatment. The most common treatment-related adverse events were infusion-associated reactions, which decreased over time. Long-term agalsidase beta therapy stabilizes renal function in patients without renal involvement at baseline, maintains reduction of plasma GL-3, and sustains GL-3 clearance in capillary endothelial cells and multiple renal cell types.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Disease Progression
  • Double-Blind Method
  • Fabry Disease / drug therapy*
  • Fabry Disease / pathology
  • Female
  • Humans
  • Isoenzymes / adverse effects
  • Isoenzymes / therapeutic use*
  • Kidney / pathology
  • Kidney Diseases / drug therapy
  • Kidney Diseases / pathology
  • Male
  • Middle Aged
  • Myocardium / pathology
  • Placebos
  • Quality of Life
  • Skin / pathology
  • Time
  • Trihexosylceramides / blood
  • Trihexosylceramides / metabolism
  • alpha-Galactosidase / adverse effects
  • alpha-Galactosidase / therapeutic use*

Substances

  • Isoenzymes
  • Placebos
  • Trihexosylceramides
  • globotriaosylceramide
  • alpha-Galactosidase
  • agalsidase beta