Publications

The following publications offer data on the management of Gaucher disease with enzyme replacement therapy (ERT). To view an abstract of one of these publications you can go to PubMed.

Andersson H, Kaplan P, Kacena, et al. Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1. Pediatrics 2008;122;1182

Barton NW, Furbish FS, Murray GJ, et al. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA. 1990;87:1913-1916.

Cabrera-Salazar M, O’Rourke E, Henderson N, et al. Correlation of surrogate markers of Gaucher disease. Implications for long-term follow up of enzyme replacement therapy. Clinica Chimica Acta. 2004;344:101-107.

Charrow J , et al. Enzyme Replacement Therapy and Monitoring for Children with Type 1 Gaucher disease: Consensus Recommendations. The Journal of Pediatrics, 2004; 144 (1): 112-120.

Charrow J, Dulisse B, Grabowski GA,Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1Gaucher disease. Clin Genet 2007;71:205-211.

Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med. 2000;160:2835-2843.

Charrow, J, Esplin JA, Gribble TJ, et al. Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med. 1998;158(16):1754-1760.

Damiano AM, Pastores GM, Ware JE Jr. The health-related quality of life of adults with Gaucher’s disease receiving enzyme replacement therapy: results from a retrospective study. Qual Life Res.1998;7:373-386.

Grabowski GA, Leslie N, Wenstrup R. Enzyme therapy for Gaucher disease: the first 5 years. Blood Reviews. 1998;12:115-133.

Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122:33-39.

Grabowski GA, Generosa A, Baldellou B, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr. 2003;163:58-66.

Hermann G, Pastores GM, Abdelwahab IF, et al. Gaucher disease: assessment of skeletal involvement and therapeutic responses to enzyme replacement. Skeletal Radiol. 1997;26(12):687-696.

Maas M, Poll LW, Terk MR. Imaging and quantifying skeletal involvement in Gaucher disease. The British Journal of Radiology. 2002; (Suppl 1):A13-A24

Masek BJ, Sims KB, Bove CM, et al. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res. 1999;8(3):263-268.

Morales LE. Gaucher’s disease: a review. Ann Pharmacother. 1996;30:381-388.

NIH Technology Assessment Panel on Gaucher Disease. Gaucher disease: current issues in diagnosis and treatment. JAMA. 1996;275:548-553.

Pastores GM, Weinreb NJ, Aerts H, et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004:41(suppl 5);4-14.

Pastores GM, Hermann G, Norton KI, et al. Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy. Skeletal Radiol. 1996;25:485-488.

Pastores GM, Wallenstein S, Desnick RJ, et al. Bone density in type 1 Gaucher disease. J Bone Miner Res. 1996;11(11):1801-1807.

Rosenthal DI, Doppelt SH, Mankin HJ, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96:629-637.

Sims KB, Pastores GM, et al.. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet 200875(3):430-40.

Starzyk K, Richards S, Yee J, Smith SE, Kingma W. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007;90(2):157-163.

Terk MR, Dardashti S, Liebman HA. Bone marrow response in treated patients with Gaucher disease: evaluation by T1-weighted magnetic resonance images and correlation with reduction in liver and spleen volume. Skeletal Radiol. 2000;29:563-571.

Wang M-L, Maller E. Case of hepatosplenomegaly. Pediatric Case Reviews. 2002;2(2):1-8.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher registry. Am J Med. 2002;113:112-119.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher registry. Am J Med. 2002;113:112-119.

Wenstrup RJ, Kacena KA, Kaplan P, Pastores GM, Prakash-Cheng A, et al. Effect of enzyme replacement therapy with Imiglucerase on BMD in type 1 Gaucher disease. J Bone Miner Res 2007;21:119-126.

Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al. Skeletal aspects of Gaucher disease: a review. The British Journal of Radiology. 2002; (Suppl 1):A2-A12

Westrup R, Bailey L, Grabowski G, et al. Gaucher disease: alendronate disodium improves bone mineral density in adults receiving enzyme therapy. Blood. 2004;104(5):1253-1257.

Young NS, Beris P, Weinreb N. Advances in Gaucher Disease: Therapeutic Goals and Evaluation and Monitoring Guidelines. Seminars in Hematology. 2004;41(4)5; 1-22.

Indication & Usage

Cerezyme® (imiglucerase for injection) is indicated for long-term enzyme replacement therapy for pediatric and adult patients with a confirmed diagnosis of Type 1 Gaucher disease that results in one or more of the following conditions:

  1. anemia
  2. thrombocytopenia
  3. bone disease
  4. hepatomegaly or splenomegaly

Important Safety Information

Approximately 15% of patients have developed IgG antibodies to Cerezyme during the first year of therapy. Approximately 46% of patients with detectable IgG antibodies experienced symptoms of hypersensitivity, and these patients have a higher risk of hypersensitivity. It is suggested that patients be monitored periodically for IgG antibody formation during the first year of treatment.

Hypersensitivity has also been observed in patients without detectable IgG antibodies. Symptoms suggestive of hypersensitivity have been noted in approximately 6.6% of all patients, and anaphylactoid reactions in less than 1%. Treatment with Cerezyme should be approached with caution in patients who have exhibited hypersensitivity symptoms such as pruritus, flushing, urticarial, angioedema, chest discomfort, dyspnea, coughing, cyanosis, and hypotension. Pre-treatment with antihistamines and/or corticosteroids and a reduced rate of infusion may allow continued treatment in most patients.

In less than 1% of patients, pulmonary hypertension and pneumonia have been observed during treatment with Cerezyme. These are known complications of Gaucher disease regardless of treatment. Patients with respiratory symptoms in the absence of fever should be evaluated for the presence of pulmonary hypertension.

Approximately 13.8% of patients have experienced adverse events related to treatment with Cerezyme. Some of these are injection site reactions such as discomfort, pruritus, burning, swelling or sterile abscess at the site at the site of venipuncture. Additional adverse reactions that have been reported include nausea, abdominal pain, vomiting, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Transient peripheral edema has also been reported for this therapeutic class of drug.

To report suspected adverse reactions, contact Genzyme at 800-745-4447, option 2 or FDA at 800-FDA-1088 or http://www.fda.gov/Safety/MedWatch

Please see Full Prescribing Information (PDF).

Within 4 years of initiating Cerezyme therapy, 93% of patients in the Gaucher Registry met at least 4 of 6 therapeutic goals.*
* Weinreb N et al. A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase. Am J Hematol. 2008;83(12):890–895.