Recombinant human α-glucosidase from rabbit milk in Pompe patients

Pompeʹs disease is a fatal muscular disorder caused by lysosomal α-glucosidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human α-glucosidase (rhGAA) 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 α-glucosidase normalised in muscle. Tissue morphology and motor and cardiac function improved. The left-ventricular-mass index decreased significantly. We recommend early treatment. Long-term effects are being studied.