Abstract
ObjectiveWe studied the effect of long-term alglucerase/imiglucerase (Ceredase®/Cerezyme®, Genzyme, a Sanofi company, Cambridge, MA, USA) treatment on hematological, visceral, and bone manifestations of Gaucher disease type 1 (GD1).MethodsThe International Collaborative Gaucher Group (ICGG) Gaucher Registry identified GD1 patients treated with alglucerase/imiglucerase who had dose and clinical data at first infusion and after 10 years of follow-up. Data for hemoglobin, platelet count, organ volumes, bone pain, and bone crisis were analyzed. Tests of the null hypothesis (no change from first infusion to 10 years) were performed using t tests for within-patient absolute change in continuous measurements and McNemar/chi-square tests for change in distributions using categorical values. An alpha level of 0.05 designated statistical significance.ResultsAs of October 2011, 557 nonsplenectomized and 200 splenectomized patients met the inclusion criteria. The majority of GD1 patients had at least one N370S allele. Compared with nonsplenectomized patients at first infusion, splenectomized patients had lower percentages of anemia (26.0 % vs. 42.8 %) and thrombocytopenia (14.2 % vs. 76.3 %), similar percentages of moderate or severe hepatomegaly (81.2 % vs. 80.0 %), and higher percentages of bone pain (88.9 % vs. 52.4 %) and bone crises (38.3 % vs. 16.0 %). After 10 years, both groups showed significant (p < 0.05) improvements in mean hemoglobin levels, platelet count, liver, and spleen (nonsplenectomized) volumes, and bone crises. Initial dosing in both groups ranged from <15 U/kg to ≤90 U/kg every 2 weeks. After 10 years, the majority was receiving 15 to ≤45 U/kg every 2 weeks.ConclusionTen years of imiglucerase treatment results in sustainable improvements in all GD1 parameters.Electronic supplementary materialThe online version of this article (doi:10.1007/s10545-012-9528-4) contains supplementary material, which is available to authorized users.
Highlights
Introduction trials and in everyday practiceThis report used observational data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry to analyze responses of Gaucher disease (GD) type 1 (GD1) patients at first infusion and after 10 years of imiglucerase treatment
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder that results from loss of function of acid βglucosidase (EC 3.2.1.45; lysosomal glucocerebrosidase) due to mutations in the glucocerebrosidase gene, GBA1 (Grabowski et al 2010)
We identified all GD type 1 (GD1) patients in the ICGG Gaucher Registry as of October 2011 who received imiglucerase (Cerezyme®, Genzyme) or alglucerase (Ceredase®, Genzyme), which are therapeutically equivalent treatments (Grabowski et al 1995)
Summary
Introduction trials and in everyday practiceThis report used observational data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry to analyze responses of GD1 patients at first infusion and after 10 years of imiglucerase treatment. Clinical manifestations of GD include hematological abnormalities (thrombocytopenia, anemia, leukopenia), splenic and hepatic enlargement (with associated dysfunction), skeletal disease (chronic bone pain, acute bone crises, defective bone mineralization, infarction, osteonecrosis, osteolysis, and pathological fractures) (Charrow et al 2000; Weinreb et al 2008), growth retardation (Kaplan et al 2006), and decreased health-related quality of life (HR-QoL) (Weinreb et al 2007). GD type 1 (GD1) is differentiated from GD2 and GD3 by the absence of overt, early-onset neurological signs and symptoms (Grabowski et al 2010). Distinct neurological symptoms such as peripheral neuropathy and Parkinson’s disease may occur in GD1 (Biegstraaten et al 2008)
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