Enzyme replacement therapy in patients with Fabry's disease.
Fabry's disease, a disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant alpha-GAL A for use as an enzyme replacement therapy was launched in Japan in April 2004. Eleven ambulatory patients with Fabry's disease were given replacement alpha-GAL A therapy. Three patients died due to factors associated with Fabry's disease. The enzyme replacement therapies in the remaining eight patients continued safely without any notable adverse events. The following were observed: a lowering of the plasma levels of GL-3 in seven cases, an improvement in the daily activities in six cases, and a reduction in corneal clouding in three cases. Although careful observation is necessary, these results suggest that replacement alpha-GAL A therapy may be a safe and effective treatment of Fabry's disease.
Tsuboi
K
K
Department of Haematology, Nagoya Central Hospital, Nagoya, Japan. kazuya.tsuboi@jr-central.co.jp
D000203:Activities of Daily Living; D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000188:drug therapy / Q000201:enzymology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010045:Outpatients; D011994:Recombinant Proteins / Q000627:therapeutic use; D016896:Treatment Outcome; D000519:alpha-Galactosidase / Q000235:genetics / Q000627:therapeutic use*
D011994:Recombinant Proteins; D000519:alpha-Galactosidase