Long-term benefit of enzyme replacement therapy in Pompe disease A 5-year prospective study
Long-term benefit of enzyme replacement therapy in Pompe disease A 5-year prospective study
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DOI：
10.1212/wnl.0000000000004711
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发表时间：
2017-12-05
期刊：
影响因子：
9.9
通讯作者：
van der Beek, Nadine A. M. E.
中科院分区：
文献类型：
--
作者：
Kuperus, Esther;Kruijshaar, Michelle E.;van der Beek, Nadine A. M. E.
目的：确定5年后酶替代疗法（ERT）的效果，并确定有利反应的预测因素，因为很少有关于ERT治疗Pompe病的长期疗效的数据。方法：我们在一项全国性的前瞻性队列研究中纳入了102名成年庞贝病患者。我们评估了肌肉力量（医学研究委员会[MRC]分级的手动肌肉测试，手持式动力测量[HHD]），肌肉功能（6分钟步行测试，快速运动功能测试），日常生活活动（Rasch-Built pompes - specific Activity [R-PAct]量表），以及肺功能（直立和仰卧位时的用力肺活量[FVC]，最大吸气和呼气压力）在ERT开始前后的3至6个月间隔。采用线性混合效应模型对重复测量数据进行分析。结果：中位随访时间为6.1年（范围0.4-7.9年），其中ERT期间为5.0年（范围0.2-7.3年）。治疗后患者肌力改善(MRC总评分+6.6个百分点[pp]； HHD总评分19.6个百分点[pp]
Objective: To determine the effect of enzyme replacement therapy (ERT) after 5 years and to identify predictors for a favorable response because few data are available on the long-term efficacy of ERT in Pompe disease.Methods: We included 102 adult patients with Pompe disease in a nationwide, prospective cohort study. We assessed muscle strength (manual muscle testing with Medical Research Council [MRC] grading, handheld dynamometry [HHD]), muscle function (6-minute walk test, Quick Motor Function Test), daily life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale), and pulmonary function (forced vital capacity [FVC] in upright and supine positions, maximum inspiratory and expiratory pressures) at 3- to 6-month intervals before and after the start of ERT. Data were analyzed with linear mixed-effects models for repeated measurements.Results: Median follow-up duration was 6.1 years (range 0.4-7.9 years), of which 5.0 years (range 0.2-7.3 years) were during ERT. Treated patients had better muscle strength (MRC sum score +6.6 percentage points [pp]; HHD sum score 19.6 pp, both p