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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Enzyme replacement therapy in patients with Fabry's disease
1Department of Haematology, Nagoya Central Hospital, Nagoya, Japan. kazuya.tsuboi@jr-central.co.jp
The Journal of International Medical Research
|August 19, 2007
Summary
Enzyme replacement therapy using alpha-galactosidase A (alpha-GAL A) shows promise for Fabry disease. This treatment may safely reduce globotriaosylceramide (GL-3) levels and improve patient symptoms.
Area of Science:
- Biochemistry and Genetics
- Lysosomal Storage Disorders
- Enzyme Replacement Therapy
Background:
- Fabry disease is a genetic disorder caused by a deficiency in the enzyme alpha-galactosidase A (alpha-GAL A).
- This deficiency leads to the accumulation of globotriaosylceramide (GL-3) in vascular endothelial cells, causing organ damage.
- Symptoms include pain, angiokeratoma, corneal clouding, and progressive kidney and heart disease.
Observation:
- Eleven ambulatory patients with Fabry disease received human recombinant alpha-GAL A enzyme replacement therapy.
- Three patients died due to Fabry disease-related factors.
- The remaining eight patients tolerated the therapy without significant adverse events.
Findings:
- Seven patients showed a reduction in plasma GL-3 levels.
- Six patients experienced improvements in daily activities.
- Three patients demonstrated a reduction in corneal clouding.
Implications:
- Enzyme replacement therapy with alpha-GAL A appears to be a safe and potentially effective treatment for Fabry disease.
- Further careful observation is warranted to fully assess long-term efficacy and safety.
- This therapy offers a potential therapeutic strategy for managing the complications of Fabry disease.
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