Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.
Pompe's disease is a fatal muscular disorder caused by lysosomal alpha-glucosidase deficiency. In an open-label study, four babies with characteristic cardiomyopathy were treated with recombinant human alpha-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 alpha-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.
Van den Hout
H
H
Reuser
A J
AJ
Vulto
A G
AG
Loonen
M C
MC
Cromme-Dijkhuis
A
A
Van der Ploeg
A T
AT
D000818:Animals; D030801:Animals, Genetically Modified; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications / Q000188:drug therapy; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000188:drug therapy*; D006801:Humans; D008892:Milk / Q000737:chemistry; D011817:Rabbits; D011994:Recombinant Proteins / Q000302:isolation & purification / Q000627:therapeutic use; D000520:alpha-Glucosidases / Q000302:isolation & purification / Q000627:therapeutic use*
D011994:Recombinant Proteins; D000520:alpha-Glucosidases