Pompe disease: Current state of treatment modalities and animal models

T. M. Geel*, P. M. J. McLaughlin, L. F. M. H. de Leij, M. H. J. Ruiters, K. E. Niezen-Koning

*Corresponding author voor dit werk

Onderzoeksoutputpeer review

28 Citaten (Scopus)

Samenvatting

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by deficiency of acid-alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction. In early-onset patients (the classical infantile form and juvenile form) this glycogen accumulation leads to death. The only therapy clinically available is enzyme replacement therapy, which compensates for the missing enzyme by i.v. administration of recombinant produced enzyme. The development of clinically relevant animal models gained more insight in the disease and allowed evaluation of recombinant enzyme therapy. Several therapies are currently under investigation for Pompe disease, including gene therapy. This review gives an overview of the available knockout mouse models, of the in vitro and in vivo studies performed using recombinant produced enzyme. Furthermore, it describes current therapeutic approaches for Pompe disease as well as experimental therapies like gene correction therapy. (c) 2007 Elsevier Inc. All rights reserved.

Originele taal-2English
Pagina's (van-tot)299-307
Aantal pagina's9
TijdschriftMolecular Genetics and Metabolism
Volume92
Nummer van het tijdschrift4
DOI's
StatusPublished - dec.-2007

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