Scientific article
OA Policy
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
Main files (1)
Article (Published version)
accessLevelPublic
Identifiers
Journal ISSN1750-1172
547views
288downloads

Technical informations

Creation07/11/2015 14:17:00
First validation07/11/2015 14:17:00
Update14/03/2023 23:58:37
Status update14/03/2023 23:58:36
Last indexation31/10/2024 02:18:08
All rights reserved by Archive ouverte UNIGE and the University of GenevaunigeBlack