Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
Genet Med. 2011 Feb;13(2):102-9. doi: 10.1097/GIM.0b013e318206786f.
To use the Hunter Outcome Survey, an international database, to assess the safety and effectiveness of enzyme replacement therapy with idursulfase in patients with Hunter syndrome who started treatment before 6 years of age.
The study population included all patients enrolled in the Hunter Outcome Survey who started idursulfase infusions (0.5 mg/kg every other week) before 6 years of age and who had at least one follow-up examination recorded.
The study population included 124 patients, younger than 6 years, who had a mean age at start of idursulfase of 3.6 ± 1.6 years (mean ± SD). The mean duration of treatment was 22.9 ± 14.6 months. A total of 69 infusion-related reactions occurred in 33 (26.6%) patients, including three serious infusion-related reactions occurring in a single patient. After at least 6 months of idursulfase, urine glycosaminoglycan levels decreased from 592 ± 188 to 218 ± 115 μg/mg creatinine (P < 0.0001, n = 34). Liver size, estimated by palpation, was also significantly decreased (P = 0.005, n = 23). Similar safety and effectiveness results were seen in patients who were aged 6 years or older when initiating idursulfase.
No new safety concerns were identified in patients younger than 6 years, and clinical benefit was suggested by the reduction in liver size.
利用国际数据库 Hunter 结局调查评估伊度硫酸酶治疗 6 岁前起病的亨特综合征患者的安全性和有效性。
研究人群包括所有入组 Hunter 结局调查并在 6 岁前开始伊度硫酸酶输注（0.5mg/kg，每两周一次）且至少有一次随访检查记录的患者。
研究人群包括 124 名 6 岁以下患者，起始伊度硫酸酶治疗时的平均年龄为 3.6±1.6 岁（均值±标准差）。平均治疗持续时间为 22.9±14.6 个月。33 名（26.6%）患者共发生 69 次输注相关反应，包括 1 名患者单次发生 3 次严重输注相关反应。至少 6 个月伊度硫酸酶治疗后，尿糖胺聚糖水平从 592±188μg/mg 肌酐降至 218±115μg/mg 肌酐（P＜0.0001，n=34）。通过触诊估计的肝脏大小也显著减小（P=0.005，n=23）。起始伊度硫酸酶治疗时年龄 6 岁及以上的患者也观察到了相似的安全性和有效性结果。
在 6 岁以下患者中未发现新的安全性问题，肝脏大小的减小提示临床获益。
