Individualization of long-term enzyme replacement therapy for Gaucher disease

Hans C. Andersson, Joel Charrow, Paige Kaplan, Pramod Mistry, Gregory M. Pastores, Ainu Prakesh-Cheng, Barry E. Rosenbloom, C. Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb*

*Corresponding author for this work

Research output: Contribution to journalReview article

101 Scopus citations

Abstract

Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous condition affecting multiple organ systems. Patients with nonneuronopathic (type 1) Gaucher disease may suffer from hepatomegaly, splenomegaly, thrombocytopenia, bleeding tendencies, anemia, hypermetabolism, skeletal pathology, growth retardation, pulmonary disease, and decreased quality of life. Enzyme replacement therapy (ERT) with mannose-terminated glucocerebrosidase (imiglucerase, Cerezyme, Genzyme Corporation, Cambridge, MA) reverses or ameliorates many of the manifestations of type 1 Gaucher disease. However, due to the variable pattern and severity of disease, and the uncertain manner of progression, implementation of treatment, choice of initial and maintenance imiglucerase dose, and evaluation of the therapeutic response must be tailored to the individual patient. For the past 14 years, the US Regional Coordinators of the International Collaborative Gaucher Group have individually and collectively developed extensive clinical experience in managing patients with Gaucher disease. In this review, we present recommendations for initial imiglucerase treatment and subsequent dose adjustments based on a schedule of regular assessment and monitoring, and achievement and maintenance of defined therapeutic goals.

Original languageEnglish (US)
Pages (from-to)105-110
Number of pages6
JournalGenetics in Medicine
Volume7
Issue number2
DOIs
StatePublished - Feb 1 2005

Keywords

  • Dose adjustment
  • Enzyme replacement therapy
  • Gaucher disease
  • Imiglucerase
  • Therapeutic goals

ASJC Scopus subject areas

  • Genetics(clinical)

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    Andersson, H. C., Charrow, J., Kaplan, P., Mistry, P., Pastores, G. M., Prakesh-Cheng, A., Rosenbloom, B. E., Scott, C. R., Wappner, R. S., & Weinreb, N. J. (2005). Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine, 7(2), 105-110. https://doi.org/10.1097/01.GIM.0000153660.88672.3C