Cerezyme (Imiglucerase)
Enzyme replacement therapy for Gaucher disease type 1 and type 3
Quick Facts About Cerezyme
Key Takeaways About Cerezyme
- Treats Gaucher disease: Cerezyme replaces the deficient acid beta-glucosidase enzyme, reducing the accumulation of glucocerebroside in the body
- Given by intravenous infusion: Administered every two weeks under medical supervision, with a recommended dose of 60 units/kg body weight
- Infusion reactions possible: Patients may experience allergic or infusion-related reactions during or shortly after treatment and should be monitored
- Individualised dosing: Your doctor will adjust the dose based on your response, monitoring symptoms every 6 to 12 months
- Requires cold storage: Unopened vials must be stored in a refrigerator at 2°C to 8°C; diluted solution can be kept up to 24 hours if refrigerated
What Is Cerezyme and What Is It Used For?
Cerezyme (imiglucerase) is an enzyme replacement therapy used to treat patients with a confirmed diagnosis of Gaucher disease type 1 or type 3. It works by replacing the deficient acid beta-glucosidase enzyme, helping the body break down glucocerebroside, a fatty substance that accumulates in organs and tissues.
Gaucher disease is a rare autosomal recessive genetic disorder classified as a lysosomal storage disease. It is caused by mutations in the GBA1 gene, which encodes the enzyme acid beta-glucosidase (also known as glucocerebrosidase). When this enzyme is deficient or absent, a fatty substance called glucocerebroside (glucosylceramide) accumulates within macrophages — immune cells that normally help clear cellular waste. These engorged macrophages, known as “Gaucher cells,” infiltrate the spleen, liver, bone marrow, and sometimes the lungs and brain, leading to progressive organ damage.
Gaucher disease is the most common lysosomal storage disorder worldwide, with an estimated prevalence of approximately 1 in 40,000 to 1 in 60,000 in the general population. However, it occurs at significantly higher rates in certain populations, particularly Ashkenazi Jewish communities, where the carrier frequency may be as high as 1 in 15. The disease is categorised into three clinical types based on the presence and severity of neurological involvement.
Type 1 (non-neuronopathic) is the most common form, accounting for approximately 90–95% of all cases in Western countries. It does not involve the central nervous system and is characterised by enlargement of the spleen and liver (hepatosplenomegaly), anaemia, thrombocytopenia (low platelet count leading to a tendency to bleed easily), and skeletal complications including bone pain, bone crises, osteoporosis, and pathological fractures. The age of onset and severity can vary widely, from childhood to late adulthood.
Type 3 (chronic neuronopathic) includes the systemic features of type 1 but also involves slowly progressive neurological symptoms such as abnormal eye movements (oculomotor apraxia), seizures, and cognitive difficulties. Type 3 typically presents in childhood or adolescence.
Cerezyme contains the active substance imiglucerase, which is a modified form of the human enzyme acid beta-glucosidase produced using recombinant DNA technology. Each vial contains 400 units of imiglucerase. When administered intravenously, imiglucerase is taken up by macrophages through mannose receptors on their surface, enters the lysosomes, and catalyses the hydrolysis of glucocerebroside into glucose and ceramide. This process reduces the pathological accumulation of glucocerebroside and addresses the underlying cause of the disease.
In healthy individuals, the enzyme acid beta-glucosidase breaks down glucocerebroside as part of normal cellular recycling. In Gaucher disease, this enzyme is deficient or malfunctioning. Cerezyme provides a synthetic version of this enzyme through regular intravenous infusions, allowing macrophages to process and clear the accumulated glucocerebroside. Clinical studies have demonstrated that ERT can reverse hepatosplenomegaly, improve haematological parameters, and reduce skeletal complications over time.
Cerezyme was first approved by the European Medicines Agency (EMA) in 1997 and has since become a cornerstone of Gaucher disease management worldwide. It is indicated for long-term treatment in patients who show signs of the disease, including anaemia, thrombocytopenia, hepatosplenomegaly, or bone disease. The information in this article applies to all patient groups, including children, adolescents, adults, and the elderly.
What Should You Know Before Taking Cerezyme?
Before starting Cerezyme, inform your doctor about any allergies, current medications, and whether you are pregnant or breastfeeding. Cerezyme must not be used if you are allergic to imiglucerase or any of the other ingredients. Infusion-related reactions and pulmonary hypertension are important considerations.
Contraindications
Cerezyme must not be used if you are allergic (hypersensitive) to imiglucerase or any of the other ingredients in this medicine. The excipients include mannitol, sodium citrate, citric acid monohydrate, and polysorbate 80. If you have experienced a severe allergic reaction to imiglucerase in the past, your doctor will carefully evaluate whether continued treatment is appropriate and may consider alternative therapies.
Warnings and Precautions
Talk to your doctor or pharmacist before using Cerezyme if any of the following apply to you:
- Infusion-related reactions: You may experience allergic or infusion-related reactions during or shortly after receiving Cerezyme. These can include symptoms such as itching, flushing, hives, chest discomfort, rapid heartbeat, shortness of breath, or a drop in blood pressure. If you develop any of these symptoms, tell your doctor immediately. Pre-treatment with antihistamines and/or corticosteroids may be recommended to prevent recurrence. Your doctor may also test for antibodies to imiglucerase.
- Antibody formation: Some patients develop antibodies (IgG) against imiglucerase. This may reduce the effectiveness of treatment or increase the risk of infusion reactions. Your doctor may monitor antibody levels periodically, particularly if your clinical response diminishes.
- Pulmonary hypertension: Some patients with Gaucher disease develop high blood pressure in the lungs (pulmonary hypertension). The cause may be unknown, or it may be related to heart, lung, or liver problems. This condition can occur whether or not you are receiving Cerezyme. If you experience shortness of breath, particularly during physical activity, report this to your doctor promptly.
In rare cases, serious allergic reactions (anaphylaxis) have occurred during Cerezyme infusions. These reactions can be life-threatening. Cerezyme should always be administered in a setting with access to resuscitation equipment and by healthcare professionals trained to manage anaphylaxis. If you experience severe symptoms such as difficulty breathing, swelling of the face or throat, or a significant drop in blood pressure, emergency treatment will be initiated immediately.
Pregnancy and Breastfeeding
If you are pregnant, breastfeeding, think you may be pregnant, or are planning to have a baby, ask your doctor or pharmacist for advice before using this medicine. Cautious use of Cerezyme during pregnancy and breastfeeding is recommended. The decision to continue, start, or stop treatment during pregnancy should be made on an individual basis, considering the potential benefits and risks.
Gaucher disease itself can worsen during pregnancy due to increased metabolic demands. Discontinuing ERT may lead to disease flare-ups, including worsening of anaemia, thrombocytopenia, and bone complications. Therefore, many experts recommend continuing treatment during pregnancy when the benefits outweigh the potential risks. The International Collaborative Gaucher Group (ICGG) Registry collects data on pregnancy outcomes in women receiving Cerezyme, contributing to the growing body of evidence on its safety during pregnancy.
Sodium Content
Cerezyme contains 41 mg sodium (the main component of cooking/table salt) per vial. This corresponds to approximately 2% of the recommended maximum daily sodium intake for adults. The medicine is administered in 0.9% sodium chloride intravenous solution. This should be taken into consideration by patients on a controlled sodium diet.
How Does Cerezyme Interact with Other Drugs?
Cerezyme has no known significant drug interactions. However, it must not be mixed with other medicines in the same infusion. Always inform your doctor about all medications you are currently taking, have recently taken, or might take.
Based on the current prescribing information and clinical experience, no formal drug interaction studies have been conducted with Cerezyme. The enzyme imiglucerase is a recombinant protein that acts within the lysosomes of macrophages, and it is not metabolised by the cytochrome P450 enzyme system or other common drug-metabolising pathways. Therefore, pharmacokinetic interactions with small-molecule drugs are considered unlikely.
Nevertheless, there are several important considerations regarding the use of Cerezyme alongside other medicines:
| Drug / Category | Interaction Type | Clinical Significance | Recommendation |
|---|---|---|---|
| Other IV medications | Physical incompatibility | High | Do not mix Cerezyme with other medicines in the same infusion line |
| Eliglustat (Cerdelga) | Therapeutic overlap | Moderate | Do not use concurrently; eliglustat is a substrate reduction therapy that may be used as an alternative |
| Miglustat (Zavesca) | Potential pharmacodynamic interaction | Moderate | Miglustat is an inhibitor of glucosylceramide synthase; concurrent use with ERT is not standard practice |
| Antihistamines / Corticosteroids | Supportive co-administration | Low (beneficial) | May be used as pre-medication to prevent infusion reactions |
| Bisphosphonates | Complementary therapy | Low | Often used alongside ERT for bone disease; no known interaction with imiglucerase |
It is essential that you tell your doctor or pharmacist about all medicines you are taking, have recently taken, or might take. Even though Cerezyme has no known significant pharmacokinetic interactions, your healthcare team needs a complete picture of your medication regimen to provide the safest possible care.
What Is the Correct Dosage of Cerezyme?
The recommended dose of Cerezyme is 60 units per kilogram of body weight, given as an intravenous infusion once every two weeks. Your doctor will individualise your dose based on the severity of your symptoms and your response to treatment.
Cerezyme is administered via intravenous infusion (drip into a vein). It is supplied as a powder that must be reconstituted with sterile water for injection and then further diluted in 0.9% sodium chloride solution before administration. The infusion should be given over a period of one to two hours, although the rate may be adjusted based on individual tolerance.
Adults
The standard recommended starting dose for adults with Gaucher disease is 60 units/kg body weight, administered once every 14 days (every two weeks). This dose has been shown in clinical trials to effectively reduce hepatosplenomegaly, improve haematological parameters, and address skeletal complications. However, dosing is highly individualised:
Standard Adult Dosing
- Initial dose: 60 units/kg every 2 weeks (intravenous infusion)
- Dose adjustment: Your doctor may increase or decrease the dose based on your clinical response
- Monitoring: Clinical response assessed every 6 to 12 months
- Infusion duration: Typically 1–2 hours
Some patients may achieve adequate disease control at lower doses (e.g., 15–30 units/kg every two weeks), while others with more severe disease may require higher doses. The physician will evaluate disease parameters including organ volumes, blood counts, biomarkers (such as chitotriosidase and CCL18), and bone health to guide dose adjustments.
Children and Adolescents
The dosing regimen for children and adolescents is the same as for adults: 60 units/kg body weight every two weeks. Children with Gaucher disease often present with growth retardation and skeletal complications, so treatment goals may include normalisation of growth velocity in addition to improvements in haematological and visceral parameters. The physician will closely monitor growth milestones and adjust therapy as needed.
Elderly Patients
No specific dose adjustments are required for elderly patients. The standard dose of 60 units/kg every two weeks applies. However, elderly patients may have co-morbidities that require additional monitoring during infusions. Your doctor will consider your overall health status when planning your treatment.
Missed Dose
If you miss a scheduled infusion, contact your doctor as soon as possible to arrange the next session. Do not attempt to double your dose to compensate for a missed infusion. Maintaining regular treatment intervals is important for optimal disease management, as gaps in therapy can lead to worsening of symptoms. Your healthcare team will advise you on the best schedule going forward.
Overdose
No cases of overdose with Cerezyme have been reported. Because the medicine is administered in a controlled clinical setting under medical supervision, the risk of accidental overdose is very low. If an excessive dose were to be given, supportive care would be provided as needed.
You may ask your doctor to register your patient information in the International Collaborative Gaucher Group (ICGG) Gaucher Registry. The purpose of this registry is to improve understanding of Gaucher disease and to monitor the effectiveness and safety of enzyme replacement therapy, including Cerezyme. Your patient data is registered anonymously — no one outside the research team will know the information relates to you. This data contributes to improving outcomes for all patients with Gaucher disease.
What Are the Side Effects of Cerezyme?
Like all medicines, Cerezyme can cause side effects, although not everyone experiences them. The most common side effects include shortness of breath, cough, hives, itching, and rash. Most side effects are infusion-related and occur during or shortly after treatment.
The safety profile of Cerezyme has been well characterised through decades of clinical use and post-marketing surveillance. Infusion-related reactions are the most frequently reported adverse events and typically occur during the infusion or within hours of completion. These reactions are generally mild to moderate in severity and can often be managed by slowing the infusion rate or pre-treating with antihistamines and/or corticosteroids.
Common
May affect up to 1 in 10 patients
- Shortness of breath (dyspnoea)
- Cough
- Hives (urticaria) or localised swelling in the skin or mouth/throat
- Itching (pruritus)
- Rash
Uncommon
May affect up to 1 in 100 patients
- Dizziness
- Headache
- Tingling, stinging, burning, or numbness of the skin (paraesthesia)
- Increased heart rate (tachycardia)
- Bluish skin discolouration (cyanosis)
- Flushing
- Low blood pressure (hypotension)
- Vomiting
- Nausea
- Abdominal cramps
- Diarrhoea
- Joint pain (arthralgia)
- Discomfort, burning, swelling, or abscess at the infusion site
- Chest discomfort
- Fever
- Rigors (chills)
- Fatigue
- Back pain
Rare
May affect up to 1 in 1,000 patients
- Severe hypersensitivity reaction (anaphylaxis)
Frequency Not Known
Cannot be estimated from available data
- Transient high blood pressure (hypertension)
Some side effects are seen predominantly during or shortly after the infusion. These include itching, flushing, hives, chest discomfort, chills, fatigue, rapid heartbeat, bluish skin, shortness of breath, tingling or numbness, low blood pressure, and back pain. If you experience any of these symptoms, inform your doctor immediately. Additional medications may be given to treat or prevent allergic reactions, such as antihistamines and/or corticosteroids.
Patients who develop antibodies to imiglucerase may be at a higher risk of experiencing infusion-related reactions. If reactions occur repeatedly or worsen over time, your doctor may consider additional tests, alternative pre-medication strategies, or a switch to an alternative therapy.
It is important to report suspected adverse reactions after the medicine has been authorised. This allows continuous monitoring of the benefit-risk balance of the medicine. Healthcare professionals and patients are encouraged to report any suspected adverse reactions to their national medicines regulatory authority (e.g., the EMA in Europe, the FDA in the United States, or the MHRA in the United Kingdom).
How Should You Store Cerezyme?
Store unopened Cerezyme vials in a refrigerator at 2°C to 8°C. After reconstitution, use immediately. Diluted solution may be stored for up to 24 hours at 2°C to 8°C if protected from light. Keep out of sight and reach of children.
Proper storage of Cerezyme is essential to maintain the integrity and efficacy of the medication. Because Cerezyme is a biological product (a recombinant protein), it is sensitive to temperature fluctuations, and improper storage can lead to degradation of the active substance.
Unopened Vials
- Store in a refrigerator at 2°C to 8°C (36°F to 46°F)
- Keep the vials in the original carton to protect from light
- Do not freeze
- Do not use after the expiry date printed on the label and carton (the expiry date refers to the last day of that month)
Reconstituted Solution
After reconstitution with sterile water for injection, Cerezyme should be used immediately. The reconstituted solution in the vial cannot be stored and must be promptly diluted into an infusion bag containing 0.9% sodium chloride solution.
Diluted Solution
- The diluted solution may be stored for up to 24 hours if kept at 2°C to 8°C and protected from light
- From a microbiological standpoint, the product should be used immediately after preparation; extended storage is only acceptable if reconstitution and dilution were performed under validated aseptic conditions
Cerezyme contains no preservatives. Any unused medicine or waste material should be disposed of in accordance with local requirements. Do not dispose of medicines in wastewater or household waste. Ask your pharmacist how to dispose of medicines you no longer use. These measures help to protect the environment.
What Does Cerezyme Contain?
Cerezyme contains the active substance imiglucerase (400 units per vial), a recombinant form of the human enzyme acid beta-glucosidase. Inactive ingredients include mannitol, sodium citrate, citric acid monohydrate, and polysorbate 80.
Active Substance
The active substance is imiglucerase, a modified form of the human enzyme acid beta-glucosidase produced by recombinant DNA technology in Chinese hamster ovary (CHO) cells. Each vial contains 400 units of imiglucerase. After reconstitution with 10.2 mL of water for injection, the solution contains 40 units of imiglucerase per mL (with a reconstituted volume of 10.6 mL).
Imiglucerase differs from the native human enzyme by one amino acid substitution (histidine to arginine at position 495) and by the modification of its carbohydrate chains to expose mannose residues. This mannose-terminated glycosylation is critical for the therapeutic activity of the enzyme, as it enables targeted uptake by macrophages through mannose receptors on their cell surface.
Inactive Ingredients (Excipients)
| Excipient | Function |
|---|---|
| Mannitol | Bulking agent and lyoprotectant (protects the protein during freeze-drying) |
| Sodium citrate | Buffer (maintains pH stability of the solution) |
| Citric acid monohydrate | Buffer (pH adjustment) |
| Polysorbate 80 | Surfactant (prevents protein aggregation) |
Appearance and Packaging
Cerezyme 400 units is supplied as a white to off-white powder for concentrate for solution for infusion. It is available in packs of 1, 5, or 25 vials, although not all pack sizes may be marketed in every country. After reconstitution, the solution is a clear, colourless liquid free from visible particles. The reconstituted solution must be further diluted before use.
The reconstituted solution has a pH of approximately 6.2. After dilution in 0.9% sodium chloride solution, the final infusion volume is typically 100 to 200 mL. The diluted solution should be administered through a low-protein-binding in-line filter of 0.2 µm to remove any protein particles, without reducing the activity of imiglucerase.
How Is Cerezyme Prepared and Administered?
Cerezyme is reconstituted with sterile water, diluted in 0.9% sodium chloride solution, and administered as an intravenous infusion through a 0.2 µm in-line filter. Preparation should follow strict aseptic technique.
The following information is intended for healthcare professionals who prepare and administer Cerezyme. Each vial is for single use only.
Reconstitution
- Determine the number of vials needed based on the patient’s dosing regimen and remove them from the refrigerator
- Using aseptic technique, reconstitute each vial with 10.2 mL of water for injection
- Avoid adding the water too rapidly and mix gently to prevent foaming
- The reconstituted volume is 10.6 mL, yielding a concentration of 40 units per mL
- The reconstituted solution’s pH is approximately 6.2
- Inspect the solution for particles or discolouration — do not use if either is present
Dilution
- Withdraw exactly 10.0 mL (equivalent to 400 units) from each reconstituted vial
- Combine the withdrawn volumes and dilute with 0.9% sodium chloride solution for intravenous use to a total volume of 100 to 200 mL
- Mix the infusion solution gently
Administration
Administer the diluted solution through a low-protein-binding in-line filter of 0.2 µm to remove any protein particles. This filtration does not reduce the enzymatic activity of imiglucerase. The infusion should be completed within 3 hours. The diluted product maintains chemical stability for up to 24 hours when stored at 2°C to 8°C protected from light, but microbiological safety depends on whether reconstitution and dilution were performed under aseptic conditions.
Frequently Asked Questions About Cerezyme
Cerezyme (imiglucerase) is used to treat Gaucher disease type 1 and type 3. It is an enzyme replacement therapy that replaces the deficient acid beta-glucosidase enzyme. It addresses key disease manifestations including anaemia, low platelet count (thrombocytopenia), enlargement of the spleen and liver (hepatosplenomegaly), and skeletal complications such as bone pain and osteoporosis.
Cerezyme is given as an intravenous infusion (drip into a vein), typically over 1 to 2 hours. The recommended starting dose is 60 units per kilogram of body weight, administered once every two weeks. The powder must first be reconstituted with sterile water and then diluted in 0.9% sodium chloride solution. Treatment must be supervised by a physician experienced in Gaucher disease management. Home infusion may be possible for eligible patients after an initial period of hospital-based treatment.
The most common side effects (affecting up to 1 in 10 patients) are shortness of breath, cough, hives or localised swelling, itching, and rash. These are typically infusion-related and occur during or shortly after the infusion. Most reactions are mild to moderate and can be managed by slowing the infusion rate or pre-treating with antihistamines. Serious allergic reactions (anaphylaxis) are rare but require immediate medical attention.
Cautious use of Cerezyme during pregnancy and breastfeeding is recommended. Your doctor will weigh the benefits of continuing treatment against any potential risks. Because Gaucher disease can worsen during pregnancy, many specialists recommend continuing ERT to prevent disease flare-ups. The ICGG Gaucher Registry collects pregnancy outcome data to further inform safety recommendations. Always discuss your options with your healthcare team.
Unopened vials must be stored in a refrigerator at 2°C to 8°C. Do not freeze. After reconstitution with sterile water, the solution must be used immediately and cannot be stored in the vial. Once diluted in sodium chloride solution, it may be stored for up to 24 hours at 2°C to 8°C protected from light, provided that preparation was performed under aseptic conditions.
Gaucher disease is a rare inherited lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase (glucocerebrosidase). Without sufficient enzyme activity, a fatty substance called glucocerebroside accumulates in macrophages, which then infiltrate organs including the spleen, liver, and bone marrow. This leads to symptoms such as organ enlargement, anaemia, low platelet count, and bone complications. It is the most common lysosomal storage disorder, affecting approximately 1 in 40,000 to 1 in 60,000 people worldwide.
Your doctor may recommend home infusion if you meet certain eligibility criteria. Typically, patients must first demonstrate good tolerance to Cerezyme during several hospital-based infusions with no significant adverse reactions. Home infusion is performed by trained healthcare professionals and offers greater convenience and flexibility for patients on long-term treatment. Discuss this option with your treating physician.
References
- European Medicines Agency (EMA). Cerezyme – Summary of Product Characteristics (SmPC). Last updated 2025. Available at: ema.europa.eu/en/medicines/human/EPAR/cerezyme
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- Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2013;36(3):543–553.
- Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol. 2004;41(4 Suppl 5):4–14.
- Zimran A, Elstein D. Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci. 2003;358(1433):961–966.
- World Health Organization (WHO). WHO Model List of Essential Medicines – 23rd List, 2023.
- Mistry PK, Cappellini MD, Lukina E, et al. A reappraisal of Gaucher disease – diagnosis and disease management algorithms. Am J Hematol. 2011;86(1):110–115.
- 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.
- Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr. 2004;144(1):112–120.
- Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation, and treatments. Int J Mol Sci. 2017;18(2):441.
Editorial Team
This article has been written and reviewed by medical professionals with expertise in pharmacology, hematology, and rare metabolic diseases.
Medical Writing Team
iMedic Medical Editorial Team – Specialists in pharmacology and internal medicine with clinical experience in rare disease management.
Medical Review
Reviewed by iMedic Medical Review Board according to international guidelines (EMA, FDA, WHO). Evidence Level 1A.