Profile of eliglustat tartrate in the management of Gaucher disease

Annalisa Sechi, Andrea Dardis, Bruno Bembi

Regional Coordinator Center for Rare Diseases, Academic Hospital of Udine, Udine, Italy

Abstract: Gaucher disease (GD) is a lysosomal storage disorder caused by the deficient activity of acid beta glucosidase, with consequent accumulation of glucosylceramide in the spleen, liver, bone marrow, and various organs and tissues. Currently, the gold standard for GD treatment is enzyme replacement therapy (ERT). The efficacy of ERT in improving or stabilizing the visceral and hematological symptoms of GD is well-proven. However, since ERT has to be administered by frequent intravenous infusions, this therapeutic approach has an important impact on the patient’s quality of life. Eliglustat tartrate is a new substrate reduction therapy for GD, which acts as a specific and potent inhibitor of glucosylceramide synthase and can be administered orally. This review summarizes the results of the preclinical and clinical trials, which experimented with eliglustat, and discusses its possible role in the management of GD, when compared to the currently available treatments and the new experimental approaches.

Keywords: Gaucher disease, enzyme replacement therapy, substrate reduction therapy, eliglustat tartrate

Corrigendum for this paper has been published

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