The following recommended goals are based upon composite information obtained from the Gaucher Registry. Patient responses may vary and physicians should use their own medical judgment in applying these recommendations in the care of their patients.

Bone Disease
Anemia
Thrombocytopenia
Hepatomegaly
Splenomegaly

Thrombocytopenia

Thrombocytopenia justifying initiation of enzyme replacement therapy (ERT) is defined as repeated platelet counts of less than 100,000/mm. The magnitude and rapidity of response to ERT is influenced by baseline severity of thrombocytopenia, pretreatment spleen volume, and splenectomy status.

In the Gaucher Registry database, platelet responses to ERT were seen in patients with moderate thrombocytopenia (platelet count <120,000/mm and >60,000/mm and those with severe thrombocytopenia (platelet count <60,000/mm. Patients with moderate baseline severity achieved a greater overall increase in their platelet count, while some patients who were severely thrombocytopenic (for example, those with intact spleens) tended to remain somewhat thrombocytopenic despite a doubling of their platelet count.

The most important therapeutic goal for patients with thrombocytopenia, and one that should be achieved within 1 year of starting ERT, is to increase platelet counts to a level sufficient to prevent spontaneous, surgical, or obstetrical bleeding.

Platelet counts in patients who have undergone splenectomy should normalize within the first year of treatment. Patients with an intact spleen with moderate baseline thrombocytopenia should achieve a 1.5- to 2.0-fold increase within 1 year and approach near-normal levels by year 2. Nonsplenectomized patients with severe baseline thrombocytopenia should achieve a 1.5-fold increase within 1 year, a doubling by year 2 and further slight increases during years 2 to 5. In these circumstances, restoration of platelet counts to the normal range is not expected.

For more information about thrombocytopenia, please contact Genzyme Medical Information at 1-800-745-4447.

Important Safety Information

Adverse reactions related to Cerezyme® (imiglucerase for injection) administration have been reported in less than 15% of patients. Each of the following events occurred in less than 2% of the total patient population. Reported adverse events include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and tachycardia. Adverse events associated with the route of administration include discomfort, pruritus, burning, swelling or sterile abscess at the site of venipuncture. Symptoms suggestive of hypersensitivity include anaphylactoid reaction, pruritus, flushing, urticaria, angioedema, chest discomfort, dyspnea, coughing, cyanosis and hypotension. Approximately 15% of patients have developed IgG antibodies; periodic monitoring is suggested. Side effects should be reported promptly to Genzyme Medical Information at 800-745-4447, option 2. To learn more, please see full product information (PDF), or contact Genzyme at 1-800-745-4447.

Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1,028 patients with type 1 Gaucher disease after 2-5 years of treatment: a report from the Gaucher Registry. Am J Med. 2002; 113:112-119 .

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.

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.

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.