Enzyme replacement therapy with agalsidase beta in kidney transplant patients with Fabry disease: a pilot study

Kidney Int. 2004 Apr;65(4):1381-5. doi: 10.1111/j.1523-1755.2004.00514.x.


Background: We sought to assess the safety and efficacy of enzyme replacement therapy (ERT) with recombinant human-alpha-galactosidase A (rh-alpha-Gal A) in kidney transplant recipients with Fabry disease, a previously unstudied population.

Methods: Three male kidney transplant recipients with biochemically, genetically, and histologically confirmed Fabry disease and documented Fabry myocardiopathy received the rh-alpha-Gal A, agalsidase beta, 1 mg/kg of body weight every 2 weeks by intravenous infusion and were monitored biochemically, clinically, and electrocardiographically and echocardiographically for 18 months.

Results: Patients showed biochemical, clinical/functional, and morphologic response to ERT. Plasma globotriaosylceramide decreased 23% to 50%. Extremity pain resolved within 2 months in the patient with this manifestation. On echocardiography, left ventricular mass, end diastolic diameter (EDD), and cardiac contractility, shown by ejection fraction (EF), improved in 2 of the 3 patients receiving essentially all planned infusions. EDD and EF remained basically stable, but cardiac morphologic abnormalities progressed in the other patient, who had a 5-month interruption in ERT after the initial month. Mild mitral insufficiency persisted in all patients, as did atrial fibrillation in the affected individual. After a combined total of 116 infusions, no treatment-related adverse event, intolerance, or seroconversion was seen. Renal function remained stable and the immunosuppression regimen unchanged in all patients.

Conclusion: Our pilot study provides preliminary evidence that ERT with agalsidase beta, 1 mg/kg every 2 weeks, is safe and often effective against extra-renal manifestations in kidney transplant patients with Fabry disease. Studies with longer courses of this and higher doses of ERT are merited in this population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Atrial Fibrillation / etiology
  • Atrial Fibrillation / physiopathology
  • Echocardiography
  • Electrocardiography
  • Extremities
  • Fabry Disease / complications
  • Fabry Disease / diagnosis
  • Fabry Disease / drug therapy*
  • Fabry Disease / surgery*
  • Heart / drug effects
  • Heart / physiopathology
  • Humans
  • Isoenzymes / therapeutic use*
  • Kidney Transplantation*
  • Male
  • Middle Aged
  • Mitral Valve Insufficiency / etiology
  • Mitral Valve Insufficiency / physiopathology
  • Pain / physiopathology
  • Pilot Projects
  • Recombinant Proteins / therapeutic use
  • Treatment Outcome
  • Trihexosylceramides / blood
  • alpha-Galactosidase / therapeutic use*


  • Isoenzymes
  • Recombinant Proteins
  • Trihexosylceramides
  • globotriaosylceramide
  • alpha-Galactosidase
  • agalsidase beta