Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Genet Med. 2011 Feb;13(2):95-101. doi: 10.1097/GIM.0b013e3181fea459.
This study evaluated the safety and effectiveness of long-term enzyme replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) in patients with Hunter syndrome.
All 94 patients who completed a 53-week double-blinded study of idursulfase enrolled in this open-labeled extension study and received intravenous idursulfase at a dose of 0.5 mg/kg weekly for 2 years, and clinical outcomes and safety were assessed.
No change in percent predicted forced vital capacity was seen, but absolute forced vital capacity demonstrated sustained improvement and was increased 25.1% at the end of the study. Statistically significant increases in 6-minute walking test distance were observed at most time points. Mean liver and spleen volumes remained reduced throughout the 2-year extension study. Mean joint range of motion improved for the shoulder and remained stable in other joints. Both the parent- and child-assessed Child Health Assessment Questionnaire Disability Index Score demonstrated significant improvement. Infusion-related adverse events occurred in 53% of patients and peaked at Month 3 of treatment and declined thereafter. Neutralizing IgG antibodies were detected in 23% of patients and seemed to attenuate the improvement in pulmonary function.
Weekly infusions of idursulfase result in sustained clinical improvement during 3 years of treatment.
本研究评估了伊度硫酸酯酶（重组人艾杜糖-2-硫酸酯酶）长期替代治疗亨特综合征患者的安全性和有效性。
所有完成为期 53 周伊度硫酸酯酶双盲研究的 94 例患者均参加了本开放性扩展研究，并接受每周 0.5mg/kg 的静脉伊度硫酸酯酶治疗，为期 2 年，评估临床疗效和安全性。
未观察到预计用力肺活量百分比的变化，但绝对用力肺活量持续改善，研究结束时增加了 25.1%。在大多数时间点，6 分钟步行试验距离均观察到统计学显著增加。肝脾体积均值在整个 2 年扩展研究期间持续减少。肩部关节活动度均值改善，其他关节保持稳定。父母和患儿评估的儿童健康评估问卷残疾指数评分均有显著改善。53%的患者发生与输注相关的不良事件，在治疗第 3 个月达到峰值，此后逐渐下降。23%的患者检测到中和 IgG 抗体，似乎减弱了肺功能的改善。
每周输注伊度硫酸酯酶可在 3 年的治疗中持续改善临床症状。
