Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

Am J Hum Genet. 2001 Jan;68(1):14-25. doi: 10.1086/316953. Epub 2000 Dec 13.

Abstract

Preclinical studies of enzyme-replacement therapy for Fabry disease (deficient alpha-galactosidase A [alpha-Gal A] activity) were performed in alpha-Gal A-deficient mice. The pharmacokinetics and biodistributions were determined for four recombinant human alpha-Gal A glycoforms, which differed in sialic acid and mannose-6-phosphate content. The plasma half-lives of the glycoforms were approximately 2-5 min, with the more sialylated glycoforms circulating longer. After intravenous doses of 1 or 10 mg/kg body weight were administered, each glycoform was primarily recovered in the liver, with detectable activity in other tissues but not in the brain. Normal or greater activity levels were reconstituted in various tissues after repeated doses (10 mg/kg every other day for eight doses) of the highly sialylated AGA-1 glycoform; 4 d later, enzyme activity was retained in the liver and spleen at levels that were, respectively, 30% and 10% of that recovered 1 h postinjection. Importantly, the globotriaosylceramide (GL-3) substrate was depleted in various tissues and plasma in a dose-dependent manner. A single or repeated doses (every 48 h for eight doses) of AGA-1 at 0.3-10.0 mg/kg cleared hepatic GL-3, whereas higher doses were required for depletion of GL-3 in other tissues. After a single dose of 3 mg/kg, hepatic GL-3 was cleared for > or =4 wk, whereas cardiac and splenic GL-3 reaccumulated at 3 wk to approximately 30% and approximately 10% of pretreatment levels, respectively. Ultrastructural studies demonstrated reduced GL-3 storage posttreatment. These preclinical animal studies demonstrate the dose-dependent clearance of tissue and plasma GL-3 by administered alpha-Gal A, thereby providing the in vivo rationale-and the critical pharmacokinetic and pharmacodynamic data-for the design of enzyme-replacement trials in patients with Fabry disease.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Disease Models, Animal
  • Dose-Response Relationship, Drug
  • Fabry Disease* / drug therapy*
  • Fabry Disease* / enzymology*
  • Fabry Disease* / genetics
  • Fabry Disease* / pathology
  • Female
  • Gene Deletion*
  • Humans
  • Injections, Intravenous
  • Isoelectric Point
  • Isoenzymes / deficiency
  • Isoenzymes / genetics
  • Isoenzymes / pharmacokinetics
  • Isoenzymes / therapeutic use
  • Kidney / drug effects
  • Kidney / enzymology
  • Kidney / pathology
  • Kidney / ultrastructure
  • Male
  • Mice
  • Mice, Knockout
  • Microscopy, Electron
  • Molecular Weight
  • Recombinant Proteins / chemistry
  • Recombinant Proteins / pharmacokinetics
  • Recombinant Proteins / pharmacology
  • Recombinant Proteins / therapeutic use
  • Skin / drug effects
  • Skin / enzymology
  • Skin / pathology
  • Skin / ultrastructure
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / pharmacokinetics
  • alpha-Galactosidase / therapeutic use*

Substances

  • Isoenzymes
  • Recombinant Proteins
  • alpha-Galactosidase