Abstrakt

Eliglustat tartrate: an oral therapeutic option for Gaucher disease type 1

Gregory M Pastores and Derralynn Hughes

Gaucher disease is an inborn error of glycosphingolipid catabolism, which has been shown to be responsive to enzyme replacement therapy and substrate synthesis inhibition. Eliglustat tartrate, an analog of D-threo-1-phenyl-2-decanoylamino-3-morpholino-propanol, is an orally administered agent with properties of substrate synthesis inhibition and an acceptable pharmacokinetic profile. In Phase II clinical trials (both in the published pivotal and extension phase), eliglustat was shown to have a favorable, safe and efficacious profile. Three additional studies – identified by the acronyms ENCORE, ENGAGE and EDGE – are ongoing; it is anticipated these trials will provide additional information leading to regulatory approval. In addition, insights from these trials are expected to facilitate the development of therapeutic guidelines for the management of patients with Gaucher disease, incorporating eliglustat into the expanding list of therapeutic options.