Enzyme therapy for Pompe disease: from science to industrial enterprise.
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 alpha-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.


CONCLUSIONS
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.
Reuser
Arnold J J
AJ
Department of Clinical Genetics, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands. reuser@ikg.fgg.eur.nl
Van Den Hout
Hannerieke
H
Bijvoet
Agnes G A
AG
Kroos
Marian A
MA
Verbeet
Martin P
MP
Van Der Ploeg
Ans T
AT
D000818:Animals; D030801:Animals, Genetically Modified; D006224:Cricetinae; D003412:Cricetulus; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000503:physiopathology*; D006801:Humans; D011817:Rabbits; D000520:alpha-Glucosidases / Q000627:therapeutic use*
D000520:alpha-Glucosidases