Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Eliglustat Therapy [T88.7, E78.-]

OMIM numbers: 608902, 124030 (CYP2D6)230800,  606463 (GBA)

Dipl.-Biol. Birgit Busse

Scientific Background

The active substance eliglustat is intended for the long-term treatment of adult patients with Gaucher disease type 1 (GD1).

Eliglustat is a highly effective, specific inhibitor of glucocerebroside synthase and acts as a substrate reduction therapy (SRT) in GD1. The SRT is targeted to reduce the rate of synthesis of the main substrate glucocerebroside (glucosylceramide, GL-1), in order to prevent the increased accumulation of glucosylceramide and thereby alleviating the disease symptoms.

Eliglustat is metabolized primarily by CYP2D6 and to a lesser extent CYP3A4. The efficacy and tolerability of eliglustat is largely dependent on the CYP2D6 metabolizer status of the patient. Therefore, metabolizer status must be determined to allow the correct dosage to be assigned prior to beginning therapy. The medication should not be taken by patients who are CYP2D6 ultra-rapid metabolizers or with unclear metabolizer status (indeterminate metabolizers). In patients who are intermediate or extensive metabolizers, drug interactions, in particular the administration of CYP2D6 and CYP3A4 inhibitors, should be carefully observed as the concomitant use can lead to significantly increased plasma concentrations of eliglustat.

Further information regarding genotype and application of eliglustat can be found in the prescribing information Cerdelga®.