The Gaucher Registry is a database that documents the course of Gaucher disease in untreated patients and the effects of therapy in patients treated with ERT. Currently, the database includes data on more than 2,000 patients receiving ERT for Gaucher disease.^[1] Treatment effects observed in more than 1,000 patients with Type 1 Gaucher disease receiving ERT for up to 5 years were recently published in The American Journal of Medicine. ^[2] This report includes data on patient responses and authors’ expectations for response with continued treatment. Please see important safety information below.

The findings were as follows:

Hemoglobin increased to normal or near normal levels within the first 6 to 12 months in the majority of patients. Those patients with more severe anemia at baseline demonstrated greater absolute increases in hemoglobin levels during the first 24 months of therapy. Increases in absolute hemoglobin values ranged from 2.3 to 3.0 in the 2 to 5 year treatment period. Although mild anemia persisted in some patients after 24 months of treatment, most continued to improve or maintained the higher hemoglobin levels achieved when treated for 3 to 5 years. The authors concluded that approximately 90% of all patients with anemia should achieve normal hemoglobin levels within 2 years of starting treatment.

Compared to patients with intact spleens, patients without spleens had a more rapid early increase in platelet count and a consistently greater increase from baseline at each of the annual time points from 2 to 5 years. In the 16 patients whose spleens had been removed, 88% achieved normal platelet counts after 24 months of therapy; continuing increases from baseline were seen in the patients who were followed over 5 years. In patients with spleens, the most rapid increase in platelet count occurred during the first 12 months and occurred more slowly in those with low initial platelet counts. In the patients with spleens, 54% of those with initial counts between 60,000/mm³ and 120,000/mm³, and 16% of those with initial platelet counts less than 60,000/mm³, reached normal levels by 24 months. Although platelet counts continued to rise out to 5 years with treatment, achievement of normal platelet count was less likely in patients with very low (<60,000/mm³) initial platelet counts. The authors concluded that platelet counts should increase by 50% to 100% within the first 12 months of therapy.

Patients receiving ERT experienced decreases in liver volume, regardless of spleen status. Splenectomized patients had larger baseline volumes. These patients also experienced greater percentage decreases in liver volume with treatment than did those with spleens. Of those patients with moderate liver enlargement (more than 1.25 times normal and up to 2.5 times normal), 50% of those who had spleens removed and 58% of those with spleens demonstrated decreases in liver volumes to less than 1.25 times normal after 24 months. Of those with severe liver enlargement (>2.5 times normal) only one of the splenectomized patients (out of 17) and one of the patients with spleen (out of 11) achieved liver volume <1.25 times normal after 24 months. Decreases in liver volume were sustained over the 2 to 5 year treatment period in splenectomized patients and those with spleens. The authors concluded that patients should have a 20%-30% decrease in liver volume within 1 to 2 years of therapy, with reductions of 30%-40% by 5 years. The authors note that the liver volume rarely normalizes when the pretreatment volume is greater than 2.5 times normal and that some patients may have changes in the liver that cannot be reversed (e.g., fibrosis) and that can be involved in other complications (e.g., cirrhosis).

Patients with severe baseline spleen enlargement (more than 15 times normal) demonstrated a greater percentage decrease in spleen volume than those with moderate enlargement (more than 5 times to 15 times normal) but much less likelihood of approximating normal volumes. After 24 months of therapy, 54% of those with moderate enlargement and 4% of those with severe enlargement had achieved spleen volume less than 5 times normal. Mean spleen volume decreases were sustained but showed little further decrease from baseline over 2 to 5 years with continued treatment. The authors concluded that splenic volume should decrease 30% within 1 year of therapy and by 50% after 2 years.

Data in the Gaucher Registry are collected from physicians treating patients under common clinical conditions, i.e., outside of a pre-specified clinical protocol. Variable frequency of monitoring, interpretation of results, and choice of application of diagnostic modalities are inherent to this voluntary contribution of data. The numbers of patients in each monitored parameter were not uniform between time points. The results seen in this population may not be applicable to a specific patient or group of patients. For more information, visit the Gaucher Registry website.

Therapeutic results for Cerezyme will vary from patient to patient. To learn more, please see the full product information (PDF) for Cerezyme therapy and important safety information below.

To learn more about Cerezyme therapy and access recent data, visit the Resources section of this website.

Important Safety Information

Approximately 15% of patients have developed immune responses (antibodies). These patients have a higher risk of an allergic reaction (hypersensitivity). Use Cerezyme® (imiglucerase for injection) carefully if you have had an allergic reaction to the product in the past. Symptoms suggestive of allergic reaction happened in 6.6% of patients, and include anaphylactoid reaction (a serious allergic reaction), itching, flushing, hives, an accumulation of fluid under the skin, chest discomfort, shortness of breath, coughing, cyanosis (a bluish discoloration of the skin due to diminished oxygen), and low blood pressure. Side effects related to Cerezyme 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 side effects include nausea, vomiting, abdominal pain, diarrhea, rash, fatigue, headache, fever, dizziness, chills, backache, and rapid heart rate. Because Cerezyme therapy is administered by intravenous infusion, reactions at the site of injection may occur: discomfort, itching, burning, swelling or uninfected abscess. Cerezyme is available by prescription only. For more information, consult your physician. To learn more, please see full product information (PDF), or contact Genzyme at 1-800-745-4447.

1. The Gaucher Registry. Data on file.

2. 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.