Enzyme therapy for Pompe disease: from science to industrial enterprise |
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| Authors: | Arnold J. J. Reuser Hannerieke Van den Hout Agnes G. A. Bijvoet Marian A. Kroos Martin P. Verbeet Ans T. Van der Ploeg |
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| Affiliation: | (1) Department of Clinical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands;(2) Department of Paediatrics, Division of Metabolic Diseases, Sophia Children’s Hospital, Rotterdam, The Netherlands;(3) Institute of Chemistry, Leiden University, Leiden, The Netherlands |
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| Abstract: | Pompe disease or glycogen storage disease type II (OMIM 232300) is a metabolic myopathy with a broad clinical spectrum. Generalised muscle weakness combined with cardiomegaly presents within the first 3 months after birth, if the lysosomal α-glucosidase (AGLU) deficiency is complete. Residual enzyme activity prevents cardiac involvement and delays onset of muscle weakness. Enzyme therapy, by intravenous administration of acid AGLU, aims to supplement the missing enzyme activity. At the SHS symposium on Glycogen Storage Diseases Type I and II, in Fulda, two interim accounts were given of studies on the efficacy of enzyme therapy for Pompe disease; one with recombinant human acid AGLU produced in Chinese hamster ovary cells and the other with the same enzyme produced in the milk of transgenic rabbits.Conclusion: this review focuses on the latter study, discusses the scientific, technological and commercial aspects of the enterprise, and addresses the prospects and challenges of enzyme therapy for Pompe disease. Published online: 13 August 2002 |
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| Keywords: | Acid maltase deficiency Enzyme therapy Glycogenosis Lysosomal storage disease Transgene technology |
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