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

Published

Journal Article (Review)

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.

Full Text

Duke Authors

Cited Authors

  • Balwani, M; Burrow, TA; Charrow, J; Goker-Alpan, O; Kaplan, P; Kishnani, PS; Mistry, P; Ruskin, J; Weinreb, N

Published Date

  • February 2016

Published In

Volume / Issue

  • 117 / 2

Start / End Page

  • 95 - 103

PubMed ID

  • 26387627

Pubmed Central ID

  • 26387627

Electronic International Standard Serial Number (EISSN)

  • 1096-7206

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2015.09.002

Language

  • eng

Conference Location

  • United States