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

https://doi.org/10.1016/j.ymgme.2015.09.002Get rights and content
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Highlights

  • Existing recommendations for care of patients with Gaucher disease remain in effect.

  • Unique characteristics of eliglustat require additional investigation and monitoring.

  • Eliglustat is approved for CYP2D6 extensive, intermediate, or poor metabolizers.

  • Dosing is determined by the patient's CYP2D6 metabolizer status.

  • Dosing is modified with concomitant use of drugs also metabolized by CYP2D6 and CYP3A.

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.

Keywords

Gaucher disease type 1
Eliglustat
Substrate reduction therapy
Enzyme replacement therapy

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