Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

被引:87
作者
Ramaswami, U.
Wendt, S.
Pintos-Morell, G.
Parini, R.
Whybra, C.
Leon Leal, J. A.
Santus, F.
Beck, M.
机构
[1] Addenbrookes Hosp, Dept Paediat Endocrinol, Teaching Hosp, Cambridge CB2 2QQ, England
[2] Johannes Gutenberg Univ Mainz, Dept Paediat, D-6500 Mainz, Germany
[3] Univ Hosp Germans Trias & Pujol, Dept Paediat, Badalona, Spain
[4] Univ Milan, S Gerardo Hosp, Dept Paediat, Monza, Italy
[5] Hosp Univ Infantil Virgen Rocio, Dept Paediat, Unidad Infectol, Seville, Spain
关键词
agalsidase alfa; children; enzyme replacement therapy; Fabry disease;
D O I
10.1111/j.1651-2227.2007.00029.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Aim: To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease. Methods: Safety and efficacy of ERT with agalsidase alfa, 0.2 mg/kg infused over 40 minutes every 2 weeks for 23 weeks, were studied in a multicentre open-label trial in nine boys and four girls. Median age at the start of the study was 11.0 years (range 3.5-18 years). Results: Fifty-four adverse events were reported in 11 patients. No serious adverse events related to ERT were reported. Twelve of the 54 adverse events were considered possibly or probably related to ERT Infusion reactions (8 mild, 3 moderate) occurred in four boys, in seven infusions. One boy developed IgG antibodies, although he continued to make good clinical progress. At the end of the study, two of the four boys and the one girl on regular pain medication at baseline had stopped taking analgesics. Brief Pain Inventory (BPI) scores decreased in most patients by week 12 and were sustained until the end of the study. This change was greater in the boys, who had higher (worse) BPI scores at baseline. Pain-related quality of life (QoL) scores also decreased during the study. Plasma globotriaosylceramide concentrations and urinary globotriaosylceramide:sphingomyelin ratios decreased after 12 and 23 weeks of therapy, particularly in the boys. Increases in sweat volume were recorded in three out of five of the boys and in one of two girls tested after 23 weeks of treatment. Conclusion: ERT with agalsidase alfa in children with Fabry disease is well tolerated and, in the short term, appears to decrease pain and to improve pain-related QoL.
引用
收藏
页码:122 / 127
页数:6
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