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Gaucher disease treatment

Eliglustat (Cerdelga)

A capsule for adults with type 1 Gaucher disease, and one of the few medicines whose label is written around a gene test: the CYP2D6 result decides the dose, and for some results whether there is a dose at all.

Chemical structure of Eliglustat (Cerdelga): eliglustat, drawn by MyGeneLog™ from PubChem records
Chemical structure of eliglustat, drawn by MyGeneLog™ from public PubChem records. Free to reuse non-commercially under CC BY-NC 4.0 with credit to MyGeneLog™.

What this drug connects to

The genes involved

CYP2D6

Gaucher Disease →

Eliglustat (Cerdelga) is a capsule for adults with type 1 Gaucher disease. It slows the body's making of the fat that builds up, so less of it piles into the cells. Here a gene test is part of the prescription: the label says it is for people whose CYP2D6 type has been found by an FDA-cleared test. People with normal or intermediate CYP2D6 take 84 mg twice a day, and people whose CYP2D6 barely works take 84 mg once a day. People whose CYP2D6 works unusually fast may not get enough of the medicine for it to work, and when the test cannot tell the type, the label gives no dose.

CERDELGA (eliglustat) US prescribing information, revised January 2024 (DailyMed): Indications and Usage, and Dosage and Administration. This is the label itself, not a CPIC guideline.

Questions about Eliglustat (Cerdelga)

What is eliglustat?

Eliglustat, sold as Cerdelga, is a capsule for adults with type 1 Gaucher disease. In Gaucher disease a fatty substance builds up in cells because the enzyme that clears it is weak. Eliglustat works from the other end: it slows the making of that substance, so less of it piles up.

Why does Cerdelga need a genetic test?

Eliglustat is broken down by the liver enzyme CYP2D6, which works at very different speeds in different people. The US label says the medicine is for people whose CYP2D6 type has been found by an FDA-cleared test. The test is not advice about the medicine; it is part of the prescription.

What dose goes with each CYP2D6 result?

Normal (extensive) and intermediate metabolisers: 84 mg twice a day. Poor metabolisers, whose CYP2D6 barely works: 84 mg once a day. Other medicines that block CYP2D6 or CYP3A, and liver problems, can change the dose or rule the medicine out, so the prescriber checks those too.

Who may not be able to take it?

People whose CYP2D6 works unusually fast, ultra-rapid metabolisers, may clear it so quickly that it does not work. When a test cannot tell the CYP2D6 type, the label gives no dose. Both are reasons a specialist may choose a different treatment.

Can I use a consumer DNA result instead of the test?

No. The label asks for an FDA-cleared CYP2D6 test, and a raw data file from a consumer service is not one.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Eliglustat (Cerdelga). MyGeneLog™. https://www.mygenelog.com/drugs/eliglustat

This page is educational and contains no dosing information. Where a clinical guideline covers one of these gene-drug pairs it is written for prescribers and works through validated algorithms alongside clinical monitoring. Nothing here is a reason to start, stop, or change a medication — that conversation belongs with the clinician or pharmacist managing your treatment.