Eliglustat (Dosage)

Eliglustat is an inhibitor of the enzyme glocosylceramide synthase used in the treatment of Gaucher disease. The drug is significantly metabolized by the cytochrome CYP2D6, so that functional differences in this cytochrome can lead to increased or decreased biotransformation, resulting in failure to achieve the therapeutic concentration.

Eliglustat is a drug that is used to treat inborn errors of metabolism (belongs to a group of drugs called enzyme inhibitors). It is usually prescribed in concomitance with other therapies for the treatment of Gaucher disease type 1.


Eliglustat is a potent specific glucosylceramide synthase inhibitor that acts as a substrate reducing treatment (SRT) for type 1 Gaucher disease (GD1).

The objective of the SRT is to reduce the synthesis rate of the main glucosylceramide substrate (GL-1) to adapt it to the altered catabolism rate in patients with GD1 and thus prevent the accumulation of glucosylceramide and relieve clinical manifestations.


Eliglustat is contraindicated in patients who present hypersensitivity to this drug.

Eliglustat is contraindicated in patients who are normal metabolizers (EM) or intermediate metabolizers (IM) who are taking a potent or moderate CYP2D6 inhibitor concomitantly with a potent or moderate CYP3A inhibitor.

Eliglustat is contraindicated in poor metabolizer patients (PM) for CYP2D6 cytochrome who are receiving a potent CYP3A inhibitor.


Cautions should be taken when prescribing eliglustat in patients with hepatic impairment and in patients with renal impairment.

It is recommended to genotype CYP2D6 before starting a treatment with eliglustat.

Eliglustat should not be prescribed in CYP2D6 ultrarapid metabolizers (UM) or in undetermined individuals of CYP2D6 (CYP2D6 genotyping is recommended before prescribing eliglustat), or in patients with heart disease.

Caution should be taken in patients suffering from long QT syndrome and being treated with class IA (quinidine) and class III (amiodarone, sotalol) antiarrhythmics.

Eliglustat is not recommended in concomitant treatments with potent CYP3A inducers; in these cases the clinical response should be controlled and a change in the treatment should be considered.

No efficacy and safety data are available in children under 18 years.


Headache, nausea, diarrhea, abdominal pain, flatulence, arthralgia and fatigue.


In-depth patient monitoring should be performed and dose adjustment of eliglustat should be considered if it is being prescribed concomitantly with CYP2D6 inhibitors (such as duloxetine, terbinafine, moclobemide, mirabegron, cinacalcet, dronedarone and other more potent inhibitors) and/or with CYP3A inhibitors (erythromycin, ciprofloxacin, fluconazole, diltiazem, verapamil, aprepitant, atazanavir, darunavir, fosamprenavir, imatinib, cimetidine, clarithromycin, ketoconazole, itraconazole, cobicistat, indinavir, lopinavir, ritonavir, saquinavir, telaprevir, tipranavir, posaconazole, voriconazole, telithromycin, conivaptan, boceprevir). In patients who are poor metabolizers (PM) for CYP2D6, these precautions should be performed in a more rigorously way. If eliglustat is prescribed, the dose of P-glycoprotein substrate drugs (digoxin, colchicine, dabigatran, phenytoin, pravastatin) and CYP2D6 substrate drugs (nortriptyline, amitriptyline, imipramine, desipramine, phenothiazines, dextromethorphan and atomoxetine) should be reduced.


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