Eliglustat

Gaucher disease is caused by a deficiency of the lysosomal enzyme acid β-glucosidase. Acid β-glucosidase catalyzes the conversion of the sphingolipid glucocerebroside into glucose and ceramide.

• CERDELGA is indicated for the long-term treatment of adult patients with Gaucher disease type 1 (GD1) who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test [see Dosage and Administration (2.1) ] . CERDELGA is a glucosylceramide synthase inhibitor indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.

• CERDELGA is contraindicated in the following patients based on CYP2D6 metabolizer status due to the risk of cardiac arrhythmias from prolongation of the PR, QTc, and/or QRS cardiac intervals. EMs Taking a strong or moderate CYP2D6 inhibitor concomitantly with a strong or moderate CYP3A inhibitor.contraindicated

Patient Selection ( 2.1 ) : Select patients using an FDA-cleared test for determining CYP2D6 genotype. Recommended Dosage Based on CYP2D6 Metabolizer Status ( 2.2 ) : EMs and IMs: 84 mg orally twice daily. PMs: 84 mg orally once daily. See the Full Prescribing Information for dosing recommendations in patients receiving CYP2D6 and/or CYP3A inhibitors, or with renal or hepatic impairment. ( 2.2 , 4 , 7.1 , 8.6 , 8.7 ) Administration ( 2.4 ) : Swallow capsules whole, do not crush, dissolve or open capsules. ( 2.4 ) Avoid eating grapefruit or drinking grapefruit juice. ( 2.4 ) 2.1 Patient Selection Select patients with Gaucher disease type 1 based on their CYP2D6 metabolizer status. It is recommended patient genotypes be established using an FDA-cleared test for determining CYP2D6 genotype [see Indications and Usage (1) ] . 2.2 Recommended Adult Dosage The recommended dosage of CERDELGA in adults is based on the patient's CYP2D6 metabolizer status. Table 1: Recommended Dosage Regimen by CYP2D6 Metabolizer Status CYP2D6 Metabolizer Status CERDELGA Dosage EMs 84 mg twice daily IMs PMs 84 mg once daily 2.3 Dosage Adjustment in EMs and IMs With or Without Hepatic Impairment and Concomitant Use of CYP2D6 or CYP3A Inhibitors Reduce dosage frequency of CERDELGA 84 mg to once daily in CYP2D6 EMs and IMs with or without hepatic impairment taking CYP2D6 or CYP3A inhibitors, as shown in Table 2 [see Warnings and Precautions (5.1) , Drug Interactions (7.1) , Use in Specific Populations (8.7) ] .

ECG Changes and Potential for Cardiac Arrhythmias : Not recommended in patients with pre-existing cardiac disease, long QT syndrome, and concomitant use of Class IA and Class III antiarrhythmics. ( 5.1 ) 5.1 ECG Changes and Potential for Cardiac Arrhythmias CERDELGA is predicted to cause increases in ECG intervals (PR, QTc, and QRS) at substantially elevated eliglustat plasma concentrations and may increase the risk of cardiac arrhythmias. Use of CERDELGA is contraindicated, to be avoided, or requires dosage adjustment in patients taking CYP2D6 or CYP3A inhibitors, depending on CYP2D6 metabolizer status, type of inhibitor, or degree of hepatic impairment [see Dosage and Administration (2.3) , Contraindications (4) , Drug Interactions (7.1) ] . Use of CERDELGA in patients with pre-existing cardiac conditions has not been studied during clinical trials. Avoid use of CERDELGA in patients with: pre-existing cardiac disease (congestive heart failure, recent acute myocardial infarction, bradycardia, heart block, ventricular arrhythmia) long QT syndrome in combination with Class IA (e.g., quinidine, procainamide) or Class III (e.g., amiodarone, sotalol) antiarrhythmic medications [see Clinical Pharmacology (12.2) ]

Most common adverse reactions (≥10%) are: fatigue, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain. ( 6.1 ) To report SUSPECTED ADVERSE REACTIONS, contact Genzyme Corporation at 1-800-745-4447 or FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. 6.1 Clinical Trials Experience Because clinical trials are conducted under widely varying conditions, adverse reaction rates observed in the clinical trials of a drug cannot be directly compared to rates in the clinical trials of another drug and may not reflect the rates observed in practice. The most common adverse reactions to CERDELGA (occurring in ≥10% of the 126 GD1 patients treated with CERDELGA across Trials 1 and 2) were fatigue, headache, nausea, diarrhea, back pain, pain in extremities, and upper abdominal pain. The adverse reaction profile of CERDELGA is based on two controlled studies, Trials 1 and 2 [see Clinical Studies (14.1 , 14.2) ] . Table 3 presents the profile from the 9-month double-blind, randomized, placebo-controlled trial of 40 treatment-naive patients (Trial 1). Patients were between the ages of 16 and 63 on the date of the first dose of study drug, and included 20 males and 20 females.

8.1 Pregnancy Risk Summary Available data on CERDELGA use in pregnant women includes 20 pregnancies that occurred during the clinical development program and a small number of post-marketing case reports. These data are not sufficient to assess drug-associated risks major birth defects, miscarriage, or adverse maternal or fetal outcomes. In animal reproduction studies in pregnant rats administered oral eliglustat during organogenesis, a spectrum of various developmental abnormalities were observed at doses 6 times the recommended human dose. No adverse developmental outcomes were observed with oral administration of eliglustat to pregnant rabbits at dose levels 10 times the recommended human dose [see Data ] . The estimated background risk of major birth defects and miscarriage in the indicated population is unknown. All pregnancies have a background risk of birth defect, loss or other adverse outcomes. In the U.S. general population, the estimated background risk of major birth defects and miscarriage in clinically recognized pregnancies is 2% to 4% and 15% to 20%, respectively. Clinical Considerations Disease-associated maternal and/or embryo/fetal risk Women with Gaucher disease type 1 have an increased risk of spontaneous abortion, especially if disease symptoms are not treated and controlled pre-conception and during a pregnancy.

Metabolism

Absorption The oral bioavailability of eliglustat was less than 5% in CYP2D6 EMs following a single 84 mg dose of CERDELGA. In CYP2D6 EMs, the eliglustat pharmacokinetics is time-dependent and the systemic exposure increases in a more than dose-proportional manner over the dose range of 42 to 294 mg (0.5 to 3.5 times the recommended dosage).

The highest eliglustat plasma concentration experienced to date occurred in a single-dose, dose escalation study in healthy subjects, in a subject taking a dose equivalent to approximately 21 times the recommended dose for GD1 patients. At the time of the highest plasma concentration (59-fold higher than normal therapeutic conditions), the subject experienced dizziness marked by disequilibrium, hypotension, bradycardia, nausea, and vomiting. In the event of acute overdose, the patient should be carefully observed and given symptomatic and supportive treatment. Hemodialysis is unlikely to be beneficial given that eliglustat has a large volume of distribution [see Clinical Pharmacology (12.3) ] .

• Aug 19, 2014NDANDA205494Genzyme Corp

1. 1Weight Increased15310%
2. 2Weight Decreased1328.7%
3. 3Product Dose Omission In Error1318.7%
4. 4Fatigue765.0%
5. 5Product Dose Omission Issue755.0%
6. 6Arthralgia503.3%
7. 7Nausea483.2%
8. 8Dyspepsia463.0%
9. 9Fall442.9%
10. 10Covid-19422.8%
11. 11Dizziness412.7%
12. 12Diarrhoea392.6%
13. 13Nasopharyngitis392.6%
14. 14Product Dose Omission382.5%
15. 15Condition Aggravated362.4%

The 10 most recently updated of 21 ClinicalTrials.gov registrations naming Eliglustat as an intervention. Registration is not evidence of efficacy or safety — reference crosswalk only.

• GSL Synthetase Inhibitor Plus Immune Checkpoint Inhibitor and/or Regorafenib in Previously Treated pMMR/MSS CRC.
  Recruiting · Phase 2 · Interventional · 120 enrolled · Chinese PLA General Hospital
  NCT06558773updated 2026-02-11
• Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3
  Completed · Phase 3 · Interventional · 57 enrolled · Sanofi
  NCT03485677updated 2026-01-14
• GSL Synthetase Inhibitor Eliglustat Combined With CD30 Target Immunotherapy for the Treatment of of CD30+ Lymphoma
  Recruiting · Phase 1 · Phase 2 · Interventional · 40 enrolled · Chinese PLA General Hospital
  NCT07138547updated 2026-01-02
• GSL Synthetase Inhibitor Plus GM-CSF and/ or Immune Checkpoint Inhibitor in Previously Treated High-Risk Neuroblastoma.
  Not yet recruiting · Early phase 1 · Interventional · 10 enrolled · Chinese PLA General Hospital
  NCT07090538updated 2025-07-29
• Efficacy and Safety of Eliglustat in Chinese Pediatric Patients With Gaucher Disease Type 1 and Type 3
  Not yet recruiting · Phase 2 · Interventional · 5 enrolled · Peking Union Medical College Hospital
  NCT06523517updated 2024-07-26
• A Study to Evaluate Pharmacokinetic Parameters of Eliglustat in Healthy Volunteers Who Are CYP2D6 Extensive or Poor Metabolizers
  Completed · Phase 1 · Interventional · 18 enrolled · Sanofi
  NCT06188325updated 2024-01-10
• A Study to Evaluate Pharmacokinetic Parameters and Safety of Eliglustat Absorption Through the Mouth
  Completed · Phase 1 · Interventional · 6 enrolled · Sanofi
  NCT06193304updated 2024-01-05
• GSL Synthetase Inhibitor in Combination With Immune Checkpoint Inhibitor in Previously Treated Blood and Solid Tumor
  Completed · Phase 1 · Interventional · 31 enrolled · Chinese PLA General Hospital
  NCT04944888updated 2023-12-19
• A Study to Evaluate Absolute Bioavailability, Absorption, Metabolism, and Excretion of Genz-112638 in Healthy Male Participants
  Completed · Phase 1 · Interventional · 10 enrolled · Sanofi
  NCT06143904updated 2023-11-22
• Eliglustat on Gaucher Disease Type IIIB
  Completed · Interventional · 4 enrolled · National Taiwan University Hospital
  NCT03519646updated 2022-09-15

CPIC-curated drug–gene pairs for Eliglustat. Levels describe the strength of curated evidence and guideline status — never a recommendation to test or to adjust therapy.

• CYP2D6CPIC A/B (provisional)FDA label: Testing Required

Frequently asked questions

How does Eliglustat work?

Gaucher disease is caused by a deficiency of the lysosomal enzyme acid β-glucosidase. Acid β-glucosidase catalyzes the conversion of the sphingolipid glucocerebroside into glucose and ceramide.

What is Eliglustat used for?

According to FDA labeling, Eliglustat carries indications including: CERDELGA is indicated for the long-term treatment of adult patients with Gaucher disease type 1 (GD1) who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test [see Dosage and Administration (2.1) ] . CERDELGA is a glucosylceramide synthase inhibitor indicated for the long-term treatment of adult patients with Gaucher disease type 1 who are CYP2D6 extensive metabolizers (EMs), intermediate metabolizers (IMs), or poor metabolizers (PMs) as detected by an FDA-cleared test.. This is a reference summary of labeled uses, not medical advice or a treatment recommendation.

What class of drug is Eliglustat?

Eliglustat is classified as Various alimentary tract and metabolism products, Glucosylceramide Synthase Inhibitor, Cytochrome P450 2D6 Inhibitors, Cytochrome P450 3A Inhibitors, Glucosylceramide Synthase Inhibitors, P-Glycoprotein Inhibitors.

What are the brand names for Eliglustat?

Eliglustat is marketed under brand names including Cerdelga.

What are the contraindications for Eliglustat?

Eliglustat labeling lists contraindications including: CERDELGA is contraindicated in the following patients based on CYP2D6 metabolizer status due to the risk of cardiac arrhythmias from prolongation of the PR, QTc, and/or QRS cardiac intervals. EMs Taking a strong or moderate CYP2D6 inhibitor concomitantly with a strong or moderate CYP3A inhibitor.. Always consult the full prescribing information and a clinician.