Human Molecular Genetics, Vol 8, 2145-2153, Copyright © 1999 by Oxford University Press
AG Bijvoet, H Van Hirtum, MA Kroos, EH Van de Kamp, O Schoneveld, P Visser, JP Brakenhoff, M Weggeman, EJ van Corven, AT Van der Ploeg and AJ Reuser
Pompe's disease or glycogen storage disease type II (GSDII) belongs to the
family of inherited lysosomal storage diseases. The underlying deficiency
of acid alpha-glucosidase leads in different degrees of severity to
glycogen storage in heart, skeletal and smooth muscle. There is currently
no treatment for this fatal disease, but the applicability of enzyme
replacement therapy is under investigation. For this purpose, recombinant
human acid alpha-glucosidase has been produced on an industrial scale in
the milk of transgenic rabbits. In this paper we demonstrate the
therapeutic effect of this enzyme in our knockout mouse model of GSDII.
Full correction of acid alpha- glucosidase deficiency was obtained in all
tissues except brain after a single dose of i.v. enzyme administration.
Weekly enzyme infusions over a period of 6 months resulted in degradation
of lysosomal glycogen in heart, skeletal and smooth muscle. The tissue
morphology improved substantially despite the advanced state of disease at
the start of treatment. The results have led to the start of a Phase II
clinical trial of enzyme replacement therapy in patients.
ARTICLES
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II
Department of Clinical Genetics,
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