Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
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چکیده
منابع مشابه
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry
This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Re...
متن کاملclinical manifestations of type 1 gaucher disease
how to cite this article: salehpour sh. clinical manifestations of type 1 gaucher disease. iran j child neurol autumn 2012; 6:4 (suppl. 1):13-14. pls see pdf. refe r ences 1. beutler e, grabowski ga. gaucher disease. in: metabolic and molecular bases of inherited disease, scriver cr, beaudet al, sly ws, valle d (eds), mcgraw-hill, new york 2001: 3635. 2. cox tm, schofield jp. gaucher’s diseas...
متن کاملClinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry
Eliglustat is a recently approved oral therapy in the United States and Europe for adults with Gaucher disease type 1 who are CYP2D6 extensive, intermediate, or poor metabolizers (> 90% of patients) that has been shown to decrease spleen and liver volume and increase hemoglobin concentrations and platelet counts in untreated adults with Gaucher disease type 1 and maintain these parameters in pa...
متن کاملGuidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease.
Between July and December 2009, global shortage of imiglucerase for the treatment of Gaucher disease has occurred due to a viral contamination of the manufacturer's (Genzyme) single production facility, which necessitated its temporary shut-down. As a result, only 20% of the prior global supply has been available, leading to either interruption of treatment, dose reduction, or starting of alter...
متن کاملSwitching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series
INTRODUCTION Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. The oral substrate reduction therapy miglustat (Zavesca®) has been available in Europe since 2002 for th...
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ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism
سال: 2021
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2020.12.295