Objective: Evaluate the clinical characteristics of all Latin American pediatric patients with Gaucher disease type 1 (GD1) enrolled in the ICGG Gaucher Registry at baseline and investigate long-term outcomes and clinical benefit of prolonged imiglucerase/alglucerase therapy in patients with manifestations of GD1 at baseline.
Methods: All Latin American patients with GD1 in the ICGG Gaucher Registry (NCT00358943) who were <18 years of age at the start of therapy and received treatment with imiglucerase (Cerezyme®, Genzyme) or alglucerase (Ceredase®, Genzyme) were identified. Of the eligible patients, subsets were classified based on clinical diagnosis of anemia, thrombocytopenia, hepatomegaly, splenomegaly, bone disease and/or growth retardation at baseline and who had one or more follow-up assessments. Data were analyzed using nonlinear mixed models. An α-level of 0.05 designated statistical significance.
Results: As of October 2011, 443 Latin American patients with GD1 met the inclusion criteria. At baseline, 174 patients reported anemia (mean hemoglobin 9.2±1.29 g/dl); 184 reported thrombocytopenia (mean platelet counts 80.6±1.37×103/mm3); 19 reported hepatomegaly (mean 2.1±0.65 MN); and 33 reported splenomegaly (mean spleen volume 21.4±9.98 MN). Mean height Z-scores were −1.3±2.93 (225 observations); 74 reported bone pain and 24 reported bone crises. After 8 years of imiglucerase/alglucerase treatment, patients showed significant (P<0.05) improvements in mean hemoglobin levels, platelet count, liver and spleen volumes, bone pain, bone crises and growth.
Conclusion: Among ICGG Gaucher Registry GD1 pediatric patients from Latin America, continuous and long-term imiglucerase therapy improves hematological, visceral and skeletal symptoms and reverses most of the clinical and biochemical manifestations of GD1.
Declaration of interest: J S Camelo, Jr works full time at the University of São Paulo, participates in the ICGG Gaucher Registry and receives fees from Genzyme for lectures and educational activities; J F Cabello is a member of the ICGG Gaucher Registry Latin American Board; G G Drelichman is a member of the ICGG Gaucher Registry Latin American Board and receives fees from Genzyme as a lecturer and for educational activities; M M Kerstenetzky is a member of the ICGG Gaucher Registry Latin American Board and receives fees from Genzyme as the Registry coordinator for Brazil, for lectures and educational activities; ICS is a member of the ICGG Gaucher Registry Latin American Board and received fees from Genzyme as the Registry coordinator for Colombia.
22 - 25 Jun 2013