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Enzyme therapy for Pompe disease: from science to industrial enterprise

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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.

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Abbreviations

AGLU :

α-glucosidase

CHO :

Chinese hamster ovary

CRIM :

cross-reactive immunological material

M6P :

mannose-6-phosphate

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Author information

Authors and Affiliations

  1. Department of Clinical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR, Rotterdam, The Netherlands

    Arnold J. J. Reuser, Agnes G. A. Bijvoet & Marian A. Kroos

  2. Department of Paediatrics, Division of Metabolic Diseases, Sophia Children’s Hospital, Rotterdam, The Netherlands

    Hannerieke Van den Hout & Ans T. Van der Ploeg

  3. Institute of Chemistry, Leiden University, Leiden, The Netherlands

    Martin P. Verbeet

Authors
  1. Arnold J. J. Reuser
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  2. Hannerieke Van den Hout
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  3. Agnes G. A. Bijvoet
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  4. Marian A. Kroos
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  5. Martin P. Verbeet
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  6. Ans T. Van der Ploeg
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Correspondence to Arnold J. J. Reuser.

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Published online: 13 August 2002

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Reuser, A.J.J., Van den Hout, H., Bijvoet, A.G.A. et al. Enzyme therapy for Pompe disease: from science to industrial enterprise. Eur J Pediatr 161, S106–S111 (2002). https://doi.org/10.1007/BF02680006

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