Anderson L J, Henley W, Wyatt K M, Nikolaou V, Waldek S, Hughes D A, Lachmann R H, Logan S
Institute of Health Research, University of Exeter Medical School, Veysey Building, Salmon Pool Lane, Exeter, Devon, EX2 4SG, UK,
J Inherit Metab Dis. 2014 Nov;37(6):945-52. doi: 10.1007/s10545-014-9728-1. Epub 2014 Jun 7.
To determine the effectiveness of enzyme replacement therapy (ERT) for adults with late-onset Pompe disease.
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.
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).
Percent predicted forced vital capacity (%FVC); ventilation dependency; mobility; 6 min walk test (6MWT); muscle strength and body mass index (BMI).
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.
These data provide some further evidence of the effectiveness of ERT in adults with late-onset Pompe disease.
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.
确定酶替代疗法（ERT）对晚发型庞贝病成人患者的疗效。
一项纵向队列研究，包括前瞻性和回顾性临床结局数据。使用广义线性混合模型估计年龄和性别调整后的治疗效果。接受治疗的患者提供治疗前和治疗期间的数据。未接受治疗的患者提供自然病史数据。
62名同意参与研究的成年患者，他们被诊断为晚发型庞贝病，在英国的一家专科治疗中心就诊。该队列占英国所有确诊患有这种罕见疾病患者的83%。在研究开始时，除三名患者外，所有患者均接受ERT治疗（治疗持续时间为0至3.1年）。
预测用力肺活量百分比（%FVC）；通气依赖；活动能力；6分钟步行试验（6MWT）；肌肉力量和体重指数（BMI）。
发现接受ERT治疗的时间与6MWT步行距离显著增加（p<0.001）和肌肉力量评分显著增加（p<0.001）之间存在关联。在ERT治疗的前两年，这两项指标均有所改善。未发现接受ERT治疗的时间与呼吸功能或BMI之间存在统计学显著关系。
这些数据为ERT对晚发型庞贝病成人患者的疗效提供了进一步证据。
这项对62名晚发型庞贝病成人患者的纵向队列研究结果，为ERT在这种罕见疾病中的疗效提供了进一步证据。
