Related Experiment Videos
Enzyme replacement therapy of Fabry disease
Joe T R Clarke1, R Mark Iwanochko
1Division of Clinical & Metabolic Genetics, Hospital for Sick Children, University Health Network, University of Toronto, Toronto, Ontario, Canada.
Molecular Neurobiology
|August 4, 2005
Summary
Enzyme replacement therapy using agalsidase-alfa or agalsidase-beta is safe and effective for treating Fabry disease. These treatments help reduce pain, stabilize kidney function, and improve heart health.
Area of Science:
- Genetics and Genetic Diseases
- Metabolic Disorders
- Enzyme Replacement Therapy
Background:
- Fabry disease is an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency.
- This deficiency leads to the accumulation of glycolipids, causing pain, kidney, heart, and cerebrovascular complications.
Purpose of the Study:
- To evaluate the safety and efficacy of enzyme replacement therapy (ERT) for Fabry disease.
- To assess the impact of ERT on disease symptoms and organ function.
Main Methods:
- Two major randomized, double-blind, placebo-controlled clinical trials and their open-label extensions were analyzed.
- Patients received either agalsidase-alfa or agalsidase-beta via biweekly intravenous infusions.
Main Results:
- ERT with agalsidase-alfa (0.2 mg/kg) significantly decreased pain and stabilized renal function.
- ERT with agalsidase-beta (1 mg/kg) led to near-complete clearance of glycolipid substrate in endothelial cells.
- ERT demonstrated stabilization of renal function and improvements in myocardial mass and function in smaller studies.
Conclusions:
- Enzyme replacement therapy with agalsidase-alfa and agalsidase-beta is a safe and effective treatment for Fabry disease.
- ERT significantly impacts major complications, including renal impairment, cardiomyopathy, and pain.
- ERT offers a viable therapeutic strategy for managing Fabry disease and its associated pathologies.