Recombinant human alpha-glucosidase from rabbit milk in Pompe patients

Pompe's disease is a fatal muscular disorder caused by lysosomal alpha-gluc osidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human alpha-glucosidase (rhGA A) from rabbit milk at starting doses of 15 mg/kg or 20 mg/kg, and later 40 mg/kg. The enzyme was generally well tolerated. Activity of alpha-glucosid ase normalised in muscle. Tissue morphology and motor and cardiac function improved. The left-ventricular-mass Index decreased significantly. We recom mend early treatment. Long-term effects are being studied.