Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal J A, Santus F, Beck M
Department of Paediatric Endocrinology, Diabetes and Metabolism, Addenbrooke's University Teaching Hospital, Cambridge, UK.
Acta Paediatr. 2007 Jan;96(1):122-7. doi: 10.1111/j.1651-2227.2007.00029.x.
To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease.
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).
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.
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.
评估酶替代疗法(ERT)对法布里病患儿的疗效。
在一项多中心开放标签试验中,对9名男孩和4名女孩进行了研究,使用阿加糖酶α进行ERT,剂量为0.2 mg/kg,每2周静脉输注40分钟,共23周。研究开始时的中位年龄为11.0岁(范围3.5 - 18岁)。
11名患者报告了54起不良事件。未报告与ERT相关的严重不良事件。54起不良事件中有12起被认为可能或很可能与ERT有关。4名男孩在7次输注中出现了输注反应(8例轻度,3例中度)。一名男孩产生了IgG抗体,尽管他的临床进展仍良好。研究结束时,基线时定期服用止痛药物的4名男孩中的2名以及1名女孩停止服用止痛药物。大多数患者的简明疼痛量表(BPI)评分在第12周时下降,并持续到研究结束。这种变化在基线时BPI评分较高(较差)的男孩中更大。疼痛相关的生活质量(QoL)评分在研究期间也有所下降。治疗12周和23周后,血浆球三糖神经酰胺浓度以及尿球三糖神经酰胺:鞘磷脂比值下降,尤其是在男孩中。治疗23周后,5名男孩中的3名以及2名接受测试的女孩中的1名出汗量增加。
法布里病患儿使用阿加糖酶α进行ERT耐受性良好,短期内似乎可减轻疼痛并改善疼痛相关的QoL。