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Scientific article
Open access
English

Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model

Published inOrphanet journal of rare diseases, vol. 9, no. 1, 95
Publication date2014
Abstract

Gaucher disease (GD) is a rare recessively inherited disorder caused by deficiency of a lysosomal enzyme, glucocerebrosidase. Accumulation of glucosylceramide or glucosylsphingosine in macrophages leads to increased production of ferritin and chitotriosidase and to decreases in hemoglobin concentration and platelet count, which are used as blood biomarkers. GD is treated by enzyme replacement therapy (ERT) or, sometimes by substrate reduction therapy. However, no physiological model for analysis of biomarkers change during ERT has been proposed. We aimed to develop a pathophysiological model to analyze biomarker's response to ERT and several covariates impact.

Keywords
  • Adolescent
  • Adult
  • Aged
  • Biological Markers/metabolism
  • Child
  • Child, Preschool
  • Female
  • Gaucher Disease/metabolism/physiopathology/therapy
  • Glucosylceramidase/therapeutic use
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Young Adult
Citation (ISO format)
VIGAN, Marie et al. Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model. In: Orphanet journal of rare diseases, 2014, vol. 9, n° 1, p. 95. doi: 10.1186/1750-1172-9-95
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Article (Published version)
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Identifiers
ISSN of the journal1750-1172
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