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Long-term effect of imiglucerase in Latin American children with Gaucher disease type 1: lessons from the International Collaborative Gaucher Group Gaucher Registry

2014; Springer Science+Business Media; Volume: 14; Issue: 1 Linguagem: Inglês

10.1186/2052-1839-14-10

2052-1839

José Simon Camelo, Juan Francisco Cabello, Guillermo Drelichman, Marcelo Kerstenetzky, Isabel Sarmiento, Soledad Suarez Ordoñez, John S. Taylor, A. R. Gwosdow, Adriana Linares,

Carbohydrate Chemistry and Synthesis

The clinical characteristics of Latin American children enrolled in the International Collaborative Gaucher Group Gaucher Registry at the time of first enzyme therapy infusion (baseline) were investigated, with special emphasis on long-term outcomes. Inclusion criteria were all Latin American patients with Gaucher disease type 1 who were <18 years at start of imiglucerase (Genzyme) or alglucerase (Genzyme) therapy. Patients were stratified based on whether they had a confirmed diagnosis of glucocerebrosidase deficiency and clinical findings of anemia, thrombocytopenia, hepatomegaly, splenomegaly, bone disease and/or growth retardation at baseline. Patients were evaluated only if they had at least one follow-up for a given parameter. Data were analyzed using nonlinear mixed models. As of October 2011, 443 patients met inclusion criteria. At diagnosis (n = 443) some children presented with anemia (189/353), thrombocytopenia (199/339), bone pain (88/248) and bone crises (30/242), while most children reported splenomegaly (volumetric: 55/57; palpation: 204/221), hepatomegaly (volumetric: 32/37; palpation: 204/230), and radiological evidence of bone disease (107/149). Of those children symptomatic at baseline, 174 had anemia, 184 had thrombocytopenia and 129 had mean height Z-scores of < −2.0. Volumetric evaluations indicate hepatomegaly and splenomegaly. After 8 years of treatment, children showed improvements in mean hemoglobin levels, platelet count, liver and spleen volumes, growth, bone pain and bone crises. Continuous and long-term treatment with imiglucerase improves hematological, visceral and skeletal manifestations of Gaucher disease type 1. NCT00358943 .