Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study
Effectiveness of enzyme replacement therapy in adults with late-onset Pompe disease: results from the NCS-LSD cohort study
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DOI：
10.1007/s10545-014-9728-1
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发表时间：
2014-11-01
影响因子：
4.2
通讯作者：
Logan, S.
中科院分区：
文献类型：
--
作者：
Anderson, L. J.;Henley, W.;Logan, S.
目的确定酶替代疗法（ERT）对成人晚发性庞贝氏症的有效性。设计一项纵向队列研究，包括前瞻性和回顾性临床结果数据。使用广义线性混合模型估计年龄和性别校正的治疗效应。接受治疗的患者在治疗前和治疗期间提供数据。未经治疗的患者提供了自然史数据。参与者包括62名诊断为晚发性庞贝氏症的成年人，他们在英格兰的一家专科治疗中心接受治疗。该队列代表了英国所有确诊为这种罕见疾病的患者的83%。在研究入组时，除3例患者外，所有患者均接受ERT治疗（治疗持续时间范围，0至3.1年）。结果测量预测用力肺活量百分比（%FVC）;通气依赖性;活动性; 6分钟步行试验（6 MWT）;结果ERT时间与6 MWT步行距离显著增加相关（p < 0.001）和肌肉力量评分（p < 0.001）。在ERT治疗的前2年，观察到这两项指标均有所改善。没有统计学显着的关系之间的时间在ERT和呼吸功能或在BMI.Conclusions这些数据提供了一些进一步的证据，ERT的有效性在成人晚发性庞贝氏症。概要62例成人晚发性庞贝氏症的纵向队列研究的结果，提供了进一步的证据，在这种罕见的情况下，ERT的有效性。
Objectives To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe disease.Design A longitudinal cohort study including prospective and retrospective clinical outcome data. Age- and gender-adjusted treatment effects were estimated using generalised linear mixed models. Treated patients contributed data before and during treatment. Untreated patients contributed natural history data.Participants Consenting adults (N = 62) with a diagnosis of late-onset Pompe disease who attended a specialist treatment centre in England. This cohort represented 83 % of all patients in the UK with a confirmed diagnosis of this rare condition. At study entry, all but three patients were receiving ERT (range of treatment duration, 0 to 3.1 years).Outcome measures Percent predicted forced vital capacity (%FVC); ventilation dependency; mobility; 6 min walk test (6MWT); muscle strength and body mass index (BMI).Results An association was found between time on ERT and significant increases in the distance walked in the 6MWT (p < 0.001) and muscle strength scores (p < 0.001). Improvements in both these measures were seen over the first 2 years of treatment with ERT. No statistically significant relationship was found between time on ERT and respiratory function or in BMI.Conclusions These data provide some further evidence of the effectiveness of ERT in adults with late-onset Pompe disease.Synopsis The results of this longitudinal cohort study of 62 adults with late-onset Pompe disease, provide further evidence on the effectiveness of ERT in this rare condition.