Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan, Priya S. Kishnani, Pramod Mistry, Jeremy Ruskin, Neal Weinreb*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

34 Scopus citations

Abstract

In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The multisystem disease is predominantly characterized by hepatosplenomegaly, anemia, thrombocytopenia, and skeletal disease. Enzyme replacement therapy with recombinant human acid β-glucosidase has been the first-line therapy for Gaucher disease type 1 for more than two decades. Eliglustat, a novel oral substrate reduction therapy, was recently approved in the United States and the European Union as a first-line treatment for adults with Gaucher disease type 1. Eliglustat inhibits glucosylceramide synthase, thereby decreasing production of the substrate glucosylceramide and reducing its accumulation. Although existing recommendations for the care of patients with Gaucher disease remain in effect, unique characteristics of eliglustat require additional investigation and monitoring. A panel of physicians with expertise in Gaucher disease and experience with eliglustat in the clinical trials provide guidance regarding the use of eliglustat, including considerations before starting therapy and monitoring of patients on eliglustat therapy.

Original languageEnglish (US)
Pages (from-to)95-103
Number of pages9
JournalMolecular Genetics and Metabolism
Volume117
Issue number2
DOIs
StatePublished - Feb 1 2016

Keywords

  • Eliglustat
  • Enzyme replacement therapy
  • Gaucher disease type 1
  • Substrate reduction therapy

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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