Raw research findings for this medication. Mostly single studies, not curated or confirmed robust.
Eliglustat is a treatment for Gaucher disease type 1, an inherited condition in which a fatty substance (glucosylceramide) builds up in the spleen, liver and bones. It blocks glucosylceramide synthase, the enzyme that makes that substance, so less of it builds up. It is taken as capsules and sold as Cerdelga.
Eliglustat is broken down mainly by the liver enzyme CYP2D6, and its US label is built around the gene: CYP2D6 genotyping is required before it is prescribed, and the label sets out which metabolizer groups it is for. Ultrarapid metabolizers may not reach working levels, and the label does not cover people whose CYP2D6 status cannot be determined. DPWG has published a guideline on CYP2D6 and eliglustat, and the US FDA lists the pair.
Clinical guidelines that name a gene for Eliglustat. They sort people into groups by the gene copies they carry.
DPWG guideline: CYP2D6. CYP2D6 activity score 0 to 6 or more.
US FDA: CYP2D6. CYP2D6 activity score 0 to 6 or more. 2018.
Every published finding on gene variants and Eliglustat. Upload your DNA file to see which of these rows apply to you.
Studies of how much of the drug people needed or tolerated.
Study findings and evidence levels: PharmGKB (CC BY-SA 4.0). Guidelines: CPIC and DPWG, as bundled in PharmCAT. Most studies were done mainly in people of European ancestry.
More drugs from the same category
Antithyroid Drugs (class) (Antithyroid Agents)
Not a prescribing recommendation. This page is educational information about pharmacogenomic research and clinical guidelines - it is not medical or dosing advice, and not a prediction of how any medication will work for you. Never start, stop, or change a medication or dose based on it; talk to your doctor or pharmacist, who can order clinical-grade testing if appropriate.
Content updated September 2026.
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