Cerdelga: Uses, Dosage & Side Effects
An oral substrate reduction therapy for the long-term treatment of Gaucher disease type 1 in adult patients, working by inhibiting glucosylceramide synthase
Cerdelga (eliglustat) is an oral medication used for the long-term treatment of Gaucher disease type 1 in adult patients. It belongs to a class of drugs known as substrate reduction therapies (SRT), working by inhibiting the enzyme glucosylceramide synthase, which reduces the production of glucosylceramide – the fatty substance that pathologically accumulates in Gaucher disease. Cerdelga is the first oral substrate reduction therapy specifically designed for Gaucher disease type 1 and provides an alternative to intravenous enzyme replacement therapy. Treatment must be initiated and supervised by a physician experienced in the management of Gaucher disease, and CYP2D6 metabolizer status must be determined before starting therapy.
Quick Facts: Cerdelga
Key Takeaways
- Cerdelga (eliglustat) is the first oral substrate reduction therapy approved for the long-term treatment of Gaucher disease type 1 in adults, providing a convenient alternative to regular intravenous enzyme replacement infusions.
- CYP2D6 genotyping is mandatory before starting treatment, as the drug's metabolism, dosing, and drug interaction profile all depend on the patient's CYP2D6 metabolizer status (extensive, intermediate, or poor metabolizer).
- The standard dose is 84 mg taken twice daily for CYP2D6 extensive and intermediate metabolizers, and 84 mg once daily for poor metabolizers; the drug is not recommended for ultra-rapid metabolizers.
- Clinical trials (ENGAGE and ENCORE) demonstrated that eliglustat significantly improves spleen volume, liver volume, hemoglobin levels, and platelet counts, and is non-inferior to enzyme replacement therapy in maintaining disease stability.
- Cerdelga may cause cardiac conduction changes (QT/QTc prolongation); ECG monitoring is recommended before and during treatment, and caution is needed when combining with other drugs that affect heart rhythm or CYP enzyme pathways.
What Is Cerdelga and What Is It Used For?
Cerdelga contains the active substance eliglustat (as the tartrate salt). It is classified as a substrate reduction therapy (SRT), a fundamentally different approach from the traditional enzyme replacement therapy (ERT) that has been the standard of care for Gaucher disease for decades. While ERT works by supplementing the deficient enzyme (glucocerebrosidase), eliglustat works upstream by inhibiting glucosylceramide synthase (also known as UDP-glucosylceramide glucosyltransferase), the enzyme responsible for the first committed step in glycosphingolipid biosynthesis. By reducing the rate at which glucosylceramide is produced, the residual glucocerebrosidase activity in the patient can more effectively clear the reduced substrate burden, restoring a balance between production and breakdown.
Gaucher disease is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which encodes the enzyme acid beta-glucosidase (glucocerebrosidase). When this enzyme is deficient or dysfunctional, its substrate glucosylceramide (also called glucocerebroside) accumulates within lysosomes, particularly in macrophages. These engorged macrophages, known as Gaucher cells, infiltrate various organs and tissues, leading to the characteristic clinical manifestations of the disease. Gaucher disease type 1 (non-neuronopathic) is the most common form, accounting for approximately 90–95% of all cases in Western populations, and primarily affects the spleen, liver, bone marrow, and skeleton.
The clinical hallmarks of Gaucher disease type 1 include splenomegaly (enlarged spleen, often markedly so), hepatomegaly (enlarged liver), anemia (low red blood cell count), thrombocytopenia (low platelet count leading to bleeding tendency), bone disease (bone pain, bone crises, avascular necrosis, osteoporosis, and pathological fractures), and fatigue. The severity and progression of these features vary considerably between individuals, even within the same family, reflecting the complex genotype-phenotype relationship in Gaucher disease. Some patients may be nearly asymptomatic while others suffer from severe, debilitating disease.
Cerdelga is approved by the European Medicines Agency (EMA), the U.S. Food and Drug Administration (FDA), and regulatory agencies in numerous other countries 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). It is indicated for both treatment-naive patients (those who have not previously received disease-specific therapy) and for patients who are clinically stable on enzyme replacement therapy and wish to switch to oral treatment. Cerdelga is not approved for patients with Gaucher disease types 2 or 3 (the neuronopathic forms), as eliglustat does not cross the blood-brain barrier in sufficient quantities to address the neurological manifestations of these subtypes.
The efficacy of Cerdelga was established in two pivotal phase 3 clinical trials. The ENGAGE trial was a randomized, double-blind, placebo-controlled study in treatment-naive adults with Gaucher disease type 1. After 9 months of treatment, patients receiving eliglustat showed statistically significant improvements in spleen volume (primary endpoint), liver volume, hemoglobin concentration, and platelet count compared with placebo. The ENCORE trial was a randomized, open-label, non-inferiority study comparing eliglustat with imiglucerase (the reference enzyme replacement therapy) in patients who had been clinically stable on ERT for at least 3 years. After 12 months, eliglustat was shown to be non-inferior to imiglucerase in maintaining hematological and visceral parameters, demonstrating that patients can safely switch from ERT to oral eliglustat without loss of disease control.
Enzyme replacement therapy (ERT) provides the missing enzyme through regular intravenous infusions, typically every two weeks. Substrate reduction therapy (SRT) with Cerdelga takes a different approach: instead of replacing the missing enzyme, it reduces the amount of substrate (glucosylceramide) that needs to be broken down. This oral approach offers greater convenience and independence for patients, as it eliminates the need for regular hospital visits for infusions. Both strategies have been shown to be effective in managing the visceral and hematological manifestations of Gaucher disease type 1.
What Should You Know Before Taking Cerdelga?
Contraindications
Cerdelga must not be used in certain clinical situations. Understanding these contraindications is essential for safe prescribing and use.
- Hypersensitivity: Do not take Cerdelga if you are allergic to eliglustat or any of the other ingredients in the capsule (microcrystalline cellulose, hypromellose, glycerol dibehenate, gelatin, titanium dioxide, and iron oxide yellow).
- CYP2D6 ultra-rapid metabolizers: Cerdelga is contraindicated in patients who are CYP2D6 ultra-rapid metabolizers (URMs), because drug levels may be too low to achieve therapeutic efficacy. Adequate plasma concentrations of eliglustat cannot be reliably maintained in these patients.
- Unknown CYP2D6 status: Treatment must not be initiated if the patient's CYP2D6 metabolizer status has not been determined, as the appropriate dose and drug interaction profile cannot be established.
- CYP2D6 EMs or IMs taking strong or moderate CYP2D6 inhibitors concomitantly with strong or moderate CYP3A4 inhibitors: In certain metabolizer-inhibitor combinations, eliglustat levels may rise to unacceptably high concentrations, increasing the risk of cardiac adverse events.
- CYP2D6 PMs taking strong CYP3A4 inhibitors: In poor metabolizers who already have elevated baseline eliglustat levels, adding a strong CYP3A4 inhibitor would further increase drug exposure to dangerous levels.
Warnings and Precautions
Eliglustat has been shown to cause mild prolongation of the QT/QTc interval at supratherapeutic concentrations. An ECG should be obtained before starting treatment and periodically during therapy. Use Cerdelga with caution in patients with pre-existing cardiac disease, a history of cardiac arrhythmias, long QT syndrome, or those taking other medications known to prolong the QT interval. Drug interactions that increase eliglustat plasma levels may amplify this risk.
Before and during treatment with Cerdelga, speak to your doctor if any of the following apply to you:
- Heart conditions: If you have or have had any heart problems, including irregular heartbeat (arrhythmia), heart failure, or a history of fainting (syncope), your doctor needs to evaluate whether Cerdelga is appropriate for you. The potential for QTc prolongation requires careful cardiac assessment.
- Liver impairment: Cerdelga has not been studied in patients with moderate or severe hepatic impairment. Since eliglustat is extensively metabolized by the liver, hepatic dysfunction may significantly alter drug levels. Use in patients with moderate hepatic impairment requires caution, and Cerdelga is not recommended in patients with severe hepatic impairment.
- Renal impairment: Cerdelga has not been studied in patients with severe renal impairment or end-stage renal disease. Use in these populations is not recommended, as the pharmacokinetics of eliglustat may be unpredictable.
- Switching from ERT: If you are switching from enzyme replacement therapy to Cerdelga, your doctor will monitor your disease parameters closely during the transition period to ensure that disease stability is maintained. There is a theoretical risk of disease destabilization during the switch.
- Concomitant medications: Many drug interactions are possible due to the metabolism of eliglustat by CYP2D6 and CYP3A4. Some interactions are absolute contraindications while others require dose adjustments. Always provide a complete medication list to your prescriber.
Pregnancy and Breastfeeding
The safety of Cerdelga during pregnancy has not been established in humans. Animal reproductive toxicity studies have shown adverse effects at doses producing systemic exposures significantly higher than those achieved at therapeutic doses. Eliglustat administered to pregnant rats at high doses caused skeletal abnormalities in offspring. Women of childbearing potential should use effective contraception during treatment with Cerdelga. If you are pregnant, think you may be pregnant, or are planning to become pregnant, discuss the risks and benefits with your Gaucher disease specialist before starting or continuing Cerdelga. In some cases, your doctor may recommend switching to enzyme replacement therapy during pregnancy, as ERT has a longer track record of use in pregnant women with Gaucher disease.
It is not known whether eliglustat or its metabolites are excreted in human breast milk. A risk to the breastfed infant cannot be excluded. A decision should be made whether to discontinue breastfeeding or to discontinue Cerdelga therapy, taking into account the benefit of breastfeeding for the child and the benefit of therapy for the mother.
CYP2D6 Pharmacogenomic Testing
One of the most distinctive features of Cerdelga therapy is the mandatory pharmacogenomic testing required before treatment initiation. The cytochrome P450 2D6 (CYP2D6) enzyme is the primary metabolic pathway for eliglustat. Genetic variations in the CYP2D6 gene result in widely varying enzyme activity across the population, which directly affects eliglustat plasma concentrations.
There are four main CYP2D6 metabolizer phenotypes relevant to Cerdelga prescribing:
- Extensive metabolizers (EMs): These individuals have normal CYP2D6 enzyme activity and represent approximately 65–80% of the Caucasian population. They metabolize eliglustat at a standard rate. The recommended dose is 84 mg twice daily.
- Intermediate metabolizers (IMs): These patients have reduced CYP2D6 activity, leading to modestly higher eliglustat plasma levels. They represent approximately 10–15% of the population. The recommended dose is also 84 mg twice daily, but closer monitoring and more restrictive drug interaction precautions apply.
- Poor metabolizers (PMs): These patients have very low or absent CYP2D6 activity, resulting in significantly elevated eliglustat plasma levels. They represent approximately 5–10% of the Caucasian population. The recommended dose is reduced to 84 mg once daily, and many drug interactions that are permissible in EMs become contraindicated in PMs.
- Ultra-rapid metabolizers (URMs): These patients have increased CYP2D6 activity, metabolizing eliglustat too quickly to maintain therapeutic levels. Cerdelga is not recommended for URMs. They represent approximately 1–10% of the population, with higher frequencies in certain ethnic groups.
The difference in eliglustat exposure between a CYP2D6 poor metabolizer and an ultra-rapid metabolizer can be as much as 7- to 9-fold. This enormous pharmacokinetic variability means that a dose appropriate for one metabolizer type could be either dangerously high or therapeutically inadequate for another. CYP2D6 genotyping is a one-time test, typically performed using a blood sample or cheek swab, and the result guides dosing and drug interaction management for the duration of treatment.
How Does Cerdelga Interact with Other Drugs?
The drug interaction profile of Cerdelga is one of the most complex of any medication, because interactions depend not only on the interacting drug but also on the patient's CYP2D6 metabolizer status. Eliglustat is primarily metabolized by CYP2D6 (with CYP3A4 as a secondary pathway in EMs and IMs, and the primary pathway in PMs). Additionally, eliglustat is a substrate of P-glycoprotein (P-gp). Drugs that inhibit or induce these metabolic pathways can significantly alter eliglustat plasma concentrations.
Major Interactions
| Interacting Drug | Effect | Clinical Significance |
|---|---|---|
| Ketoconazole, itraconazole (strong CYP3A4 inhibitors) | Markedly increased eliglustat plasma levels | Contraindicated in PMs; in EMs/IMs, requires careful evaluation and possible avoidance |
| Fluoxetine, paroxetine, quinidine (strong CYP2D6 inhibitors) | Significantly increased eliglustat levels by blocking primary metabolism | In EMs, concomitant use effectively converts patient to PM phenotype; dose reduction or avoidance may be needed depending on metabolizer status |
| Rifampicin, carbamazepine, phenytoin (strong CYP3A4 inducers) | Significantly decreased eliglustat plasma levels | Avoid combination; therapeutic eliglustat levels may not be maintained, risking loss of disease control |
| St. John’s Wort (herbal CYP3A4/P-gp inducer) | Reduced eliglustat plasma concentrations | Avoid concomitant use; may compromise efficacy |
| Combined CYP2D6 + CYP3A4 inhibitors (e.g., fluoxetine + ketoconazole) | Dramatically elevated eliglustat levels | Contraindicated in EMs and IMs; extremely dangerous pharmacokinetic interaction |
Minor Interactions
| Interacting Drug | Effect | Clinical Significance |
|---|---|---|
| Metoprolol, dextromethorphan (CYP2D6 substrates) | Eliglustat may modestly increase levels of these substrates | Monitor for increased effects; dose adjustment of substrate may be needed |
| Digoxin (P-gp substrate) | Eliglustat may increase digoxin levels via P-gp inhibition | Monitor digoxin levels; dose adjustment may be necessary |
| Grapefruit juice (moderate CYP3A4 inhibitor) | Possible modest increase in eliglustat levels | Avoid large quantities; use with caution, particularly in PMs |
| QT-prolonging drugs (e.g., amiodarone, sotalol, ondansetron) | Additive QT prolongation risk | Use with caution; ECG monitoring recommended |
Due to the complexity of interactions, your prescribing physician should always check for potential drug-drug interactions before adding or changing any medication during Cerdelga treatment. This includes not only prescription medications but also over-the-counter products, herbal supplements, and dietary substances. The interaction profile is different for each CYP2D6 metabolizer phenotype, making individualized assessment essential.
What Is the Correct Dosage of Cerdelga?
Cerdelga must always be taken exactly as prescribed by your doctor. The dose is determined by your CYP2D6 metabolizer phenotype, which is established through a one-time genetic test performed before treatment begins. The 84 mg capsule is the only available strength, and the capsule must be swallowed whole – do not open, crush, dissolve, or chew the capsule. Cerdelga can be taken with or without food.
Adults
CYP2D6 Extensive Metabolizers (EMs)
Dose: 84 mg orally twice daily (morning and evening)
Notes: This is the most common metabolizer phenotype (65–80% of population). Standard drug interaction precautions apply. Concomitant use with strong CYP2D6 inhibitors requires dose reduction to 84 mg once daily.
CYP2D6 Intermediate Metabolizers (IMs)
Dose: 84 mg orally twice daily (morning and evening)
Notes: Same dose as EMs, but more restrictive drug interaction precautions. More sensitive to CYP inhibitor interactions; some combinations that are permissible in EMs may be contraindicated in IMs.
CYP2D6 Poor Metabolizers (PMs)
Dose: 84 mg orally once daily
Notes: Reduced dose due to significantly higher baseline plasma levels. Strong CYP3A4 inhibitors are contraindicated. Many drug interactions that are manageable in EMs are not safe in PMs. The most restrictive drug interaction profile.
Children and Adolescents
Cerdelga is not approved for use in children and adolescents under 18 years of age. The safety and efficacy of eliglustat in the pediatric population have not been established. Children and adolescents with Gaucher disease type 1 are typically managed with enzyme replacement therapy. Clinical studies in pediatric patients are ongoing but regulatory approval has not yet been granted for this age group.
Elderly Patients
No specific dose adjustment is required for elderly patients based on age alone. However, elderly patients are more likely to have age-related decline in hepatic and renal function, and may be taking multiple medications that could interact with Cerdelga. Careful assessment of organ function, concomitant medications, and CYP2D6 status is particularly important in this population. The limited clinical experience in patients over 65 years of age warrants cautious use and close monitoring.
Missed Dose
If you miss a dose of Cerdelga, take it as soon as you remember, unless it is nearly time for your next scheduled dose. In that case, skip the missed dose and continue with your regular dosing schedule. Do not take a double dose to make up for a missed dose. Consistent adherence to the prescribed dosing schedule is important to maintain stable eliglustat plasma concentrations and optimal disease control. If you frequently forget to take your medication, speak to your doctor or pharmacist about strategies to improve adherence.
Overdose
There is limited experience with overdose of Cerdelga. In the event of an overdose, there is a potential risk of QTc prolongation and cardiac arrhythmias, particularly at the markedly elevated plasma concentrations that would result. There is no specific antidote for eliglustat. In case of overdose, seek immediate medical attention. Treatment is supportive: cardiac monitoring with ECG is recommended, and standard medical care should be provided as necessary. Due to the relatively long half-life of eliglustat, monitoring should be continued for an appropriate period. Hemodialysis is unlikely to be effective in removing eliglustat, as the drug is highly protein-bound and has a large volume of distribution.
What Are the Side Effects of Cerdelga?
Like all medicines, Cerdelga can cause side effects, although not everybody gets them. The side effect profile of eliglustat has been characterized through pivotal clinical trials (ENGAGE, ENCORE, and EDGE), long-term extension studies, and post-marketing surveillance. Overall, Cerdelga is generally well tolerated, and the majority of adverse reactions reported during clinical trials were mild to moderate in severity and transient in nature.
The side effects are listed below according to how commonly they occur. The frequency categories are defined as: very common (affects more than 1 in 10 people), common (affects 1 in 10 to 1 in 100 people), uncommon (affects 1 in 100 to 1 in 1,000 people), and rare (affects fewer than 1 in 1,000 people).
Very Common
Affects more than 1 in 10 people
- Headache
- Diarrhea
- Flatulence (gas)
- Nausea
- Upper abdominal pain
Common
Affects 1 in 10 to 1 in 100 people
- Fatigue
- Back pain
- Pain in extremities (arms or legs)
- Arthralgia (joint pain)
- Abdominal pain
- Constipation
- Dyspepsia (indigestion)
- Gastroesophageal reflux disease (GERD)
- Abdominal distension (bloating)
- Dry mouth
- Dizziness
- Palpitations
- Oropharyngeal pain (sore throat)
- Cough
- Rash
- Urticaria (hives)
Uncommon
Affects 1 in 100 to 1 in 1,000 people
- QT/QTc prolongation on ECG
- Peripheral neuropathy (tingling or numbness)
- Gastritis (stomach inflammation)
- Pruritus (itching)
- Insomnia (difficulty sleeping)
Rare
Affects fewer than 1 in 1,000 people
- Severe allergic reactions (anaphylaxis)
- Cardiac arrhythmias
- Syncope (fainting)
Gastrointestinal side effects are the most commonly reported adverse reactions with Cerdelga and typically occur during the first weeks of treatment. In most cases, they are mild and resolve spontaneously or with simple symptomatic management. If gastrointestinal symptoms are bothersome or persistent, speak to your doctor. Taking Cerdelga with food may help reduce stomach-related side effects in some patients, although the drug can be taken with or without food.
The cardiac effects of eliglustat deserve particular attention. In a thorough QT study, eliglustat demonstrated a mild concentration-dependent prolongation of the QTc interval. At the recommended therapeutic dose in EMs, the effect is small and generally not clinically significant. However, at supratherapeutic concentrations (which may occur due to drug interactions, poor metabolizer status without dose adjustment, or overdose), the QTc prolongation could become clinically relevant and potentially trigger cardiac arrhythmias. This is why ECG monitoring, proper CYP2D6 phenotyping, and careful management of drug interactions are so important.
Contact your doctor or seek emergency medical care immediately if you experience: signs of a severe allergic reaction (difficulty breathing, swelling of the face/throat, severe rash), fainting or episodes of near-fainting, irregular heartbeat or palpitations with dizziness, or severe abdominal pain that does not resolve.
Long-term safety data from extension studies (over 4 years of follow-up) have shown that the safety profile of Cerdelga remains consistent over time, with no new safety signals emerging with prolonged use. The incidence of adverse events tends to decrease over time as patients become accustomed to the medication.
How Should You Store Cerdelga?
Proper storage of Cerdelga is important to maintain the medication's effectiveness and safety. The capsules should be stored at room temperature, not exceeding 25°C (77°F). Keep the capsules in the original blister packaging to protect them from moisture and light. Do not remove the capsules from the blister pack until you are ready to take them.
As with all medications, keep Cerdelga out of the sight and reach of children. Store the medication in a secure location where children cannot access it. The packaging is not child-resistant, so additional precautions may be necessary in households with young children.
Do not use Cerdelga after the expiry date printed on the blister and carton. The expiry date refers to the last day of that month. Do not use the medication if you notice any visible signs of deterioration, such as discoloration or damage to the capsules.
Do not dispose of unused or expired medications via wastewater or household waste. Ask your pharmacist about proper disposal methods in your area. Appropriate disposal helps protect the environment and prevents accidental ingestion by others.
What Does Cerdelga Contain?
The active substance in Cerdelga is eliglustat, present as the tartrate salt. Each hard capsule contains eliglustat tartrate equivalent to 84 mg of eliglustat free base. The tartrate salt form was selected for its favorable pharmaceutical properties, including good stability and consistent oral bioavailability.
The capsule core contains the following inactive ingredients (excipients):
- Microcrystalline cellulose: A commonly used pharmaceutical excipient that serves as a filler and binder, providing structural integrity to the capsule contents.
- Hypromellose (hydroxypropyl methylcellulose): Used as a capsule shell material and may also function as a binder and film-forming agent.
- Glycerol dibehenate: A lubricant that facilitates the manufacturing process and ensures uniform capsule filling.
The hard capsule shell is composed of:
- Gelatin: Forms the capsule shell structure.
- Titanium dioxide (E171): A white pigment used as an opacifier in the capsule shell.
- Iron oxide yellow (E172): Provides the characteristic color of the capsule.
The capsule also contains printing ink (shellac, iron oxide black) used for the markings on the capsule shell. Cerdelga does not contain lactose, gluten, or any animal-derived ingredients other than gelatin. Patients with known sensitivities to any of the listed excipients should inform their doctor before starting treatment.
Frequently Asked Questions About Cerdelga
Gaucher disease is a rare inherited metabolic disorder caused by a deficiency of the enzyme glucocerebrosidase. Without sufficient enzyme activity, a fatty substance called glucosylceramide builds up in cells (particularly macrophages), leading to enlarged spleen and liver, low blood counts, bone disease, and fatigue. Cerdelga works by a different mechanism than traditional enzyme replacement: rather than replacing the missing enzyme, it reduces the production of glucosylceramide, so the body's remaining enzyme activity can keep up with clearing the reduced amount of substrate. This is called substrate reduction therapy.
Yes, patients who have been clinically stable on enzyme replacement therapy (such as imiglucerase, velaglucerase alfa, or taliglucerase alfa) may be eligible to switch to Cerdelga. The ENCORE clinical trial demonstrated that eliglustat was non-inferior to imiglucerase in maintaining disease stability over 12 months. The decision to switch should be made in consultation with your Gaucher disease specialist, who will ensure your CYP2D6 metabolizer status is suitable and that there are no contraindicated drug interactions. Disease parameters will be monitored closely during the transition period.
A CYP2D6 genetic test (genotyping) is required because the enzyme CYP2D6 is the main way your body breaks down eliglustat. People inherit different versions of the CYP2D6 gene, resulting in varying enzyme activity levels. The test determines whether you are an extensive, intermediate, poor, or ultra-rapid metabolizer. This information is critical because it determines: your correct dose (twice daily vs. once daily), which drug interactions are safe or contraindicated, and whether Cerdelga is appropriate for you at all (it is not recommended for ultra-rapid metabolizers). The test is typically done once using a blood or saliva sample.
If you stop taking Cerdelga, glucosylceramide will begin to accumulate again, and the symptoms and signs of Gaucher disease may return over time. The rate of disease recurrence varies among individuals but can include worsening of spleen and liver enlargement, declining blood counts, and progression of bone disease. Do not stop taking Cerdelga without discussing it with your doctor first. If treatment discontinuation is necessary (e.g., due to side effects, pregnancy planning, or drug interactions), your doctor may recommend switching to enzyme replacement therapy to maintain disease control.
Cerdelga begins working shortly after you start taking it, but improvements in disease parameters occur gradually. In the ENGAGE clinical trial, significant improvements in spleen volume, liver volume, hemoglobin, and platelet counts were observed after 9 months of treatment. However, the full therapeutic benefit may take 12 to 24 months or longer to achieve, particularly for bone-related endpoints. For patients switching from enzyme replacement therapy, the goal is to maintain (rather than improve) the disease stability already achieved. Your doctor will monitor your disease parameters regularly to assess treatment response.
There is no specific contraindication regarding alcohol consumption while taking Cerdelga. However, excessive alcohol use can impair liver function, which may affect the metabolism of eliglustat and potentially alter its plasma levels. Since many patients with Gaucher disease have hepatic involvement, additional stress on the liver from alcohol is generally inadvisable. Moderate, responsible alcohol consumption is usually acceptable, but discuss your individual situation with your doctor, especially if you have any degree of liver involvement from Gaucher disease.
References
- European Medicines Agency (EMA). Cerdelga (eliglustat) – Summary of Product Characteristics. Last updated 2025. Available at: EMA – Cerdelga EPAR
- U.S. Food and Drug Administration (FDA). Cerdelga (eliglustat) capsules – Prescribing Information. Approved August 2014, revised 2024. Available at: FDA Prescribing Information
- Mistry PK, Lukina E, Ben Turkia H, et al. Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. JAMA. 2015;313(7):695–706. doi:10.1001/jama.2015.459
- Cox TM, Drelichman G, Cravo R, et al. Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. Lancet. 2015;385(9985):2355–2362. doi:10.1016/S0140-6736(14)61841-9
- Lukina E, Watman N, Dragosky M, et al. Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment. Blood Cells Mol Dis. 2014;53(4):274–276. doi:10.1016/j.bcmd.2014.04.002
- Balwani M, Burrow TA, Charrow J, et al. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Mol Genet Metab. 2016;117(2):95–103. doi:10.1016/j.ymgme.2015.09.002
- Biegstraaten M, Cox TM, Belmatoug N, et al. Management goals for type 1 Gaucher disease: An expert consensus document from the European Working Group on Gaucher Disease. Blood Cells Mol Dis. 2018;68:203–208. doi:10.1016/j.bcmd.2016.10.008
- Kaplan P, Baris H, De Meirleir L, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013;172(4):447–458. doi:10.1007/s00431-012-1771-z
- World Health Organization (WHO). WHO Model List of Essential Medicines – 23rd List, 2023.
Medical Editorial Team
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Written by iMedic Medical Editorial Team – specialists in metabolic diseases, clinical pharmacology, and pharmacogenomics
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