Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte-macrophage system that affects the body by causing enlargement of the spleen and liver, destruction of bone, and abnormalities of the lungs and blood, such as anemia, thrombocytopenia, and leukopenia. GD is classified into three types: GD1, a chronic and non-neuronopathic disease accounting for 95% of GD cases; and types 2 and 3 (GD2 GD3) which are more progressive diseases with no approved drugs available at this time. Treatment options for GD1 include enzyme replacement therapy and substrate reduction therapy. Eliglustat works by inhibiting UDP-glucosylceramide synthase, the first enzyme that catalyzes the biosynthesis of glycosphingolipids, thus reducing the load of glucosylceramide influx into the lysosome. Eliglustat was approved by the US Food and Drug Administration after three Phase I, two Phase II, and two Phase III clinical trials. The dose of eliglustat is 84 mg twice a day or once daily depending on the cytochrome P450 2D6 genotype of the patient.
['Bennett|Lunawati L|LL|', 'Turcotte|Kelsey|K|']
D000328:Adult D000818:Animals D003362:Cost-Benefit Analysis D019389:Cytochrome P-450 CYP2D6 D004334:Drug Administration Schedule D016527:Drug Costs D004791:Enzyme Inhibitors D005776:Gaucher Disease D005838:Genotype D005963:Glucosylceramides D005964:Glucosyltransferases D006801:Humans D010597:Pharmacogenetics D010641:Phenotype D011759:Pyrrolidines D016896:Treatment Outcome
eliglustat tartrate Gaucher disease substrate reduction therapy glucocerebrosidase glucosylceramide synthase