TY - T1的大变化在影响10年的酶治疗成人疾病筛JF -神经学乔-神经病学SP - e1756 LP - e1767做- 10.1212 / WNL。首页0000000000008441六世- 93 - 19盟Laurike Harlaar盟——让Hogrel盟——芭芭拉Perniconi AU -米歇尔·e·Kruijshaar盟Dimitris Rizopoulos盟Nadjib Taouagh AU - Aurelie运河盟以斯帖Brusse AU - Pieter a·范·多尔恩盟Ans t . van der Ploeg AU - Pascal Laforet盟Nadine a . m . e . van der发现Y1 - 2019/11/05 UR - //www.ez-admanager.com/content/93/19/e1756.abstract N2 -客观确定的影响10年的酶替代疗法(ERT)在成人患者疾病首页筛,关注个体差异在治疗反应。方法在这个前瞻性,多中心队列研究中,我们研究了30名来自荷兰和法国人开始ERT只有随机安慰剂对照临床试验ERT在晚发性疾病筛(NCT00158600)或扩展(NCT00455195)在2005年到2008年。主要结果是行走的能力(6分钟步行试验[6 mwt]),肌肉力量(手动肌肉测试使用医学研究委员会(MRC)评分),和肺功能(用力肺活量(FVC)在直立和懒散的职位),评估每隔3到6个月之前和之后的ERT开始。数据分析与线性mixed-effects重复测量模型。结果对ERT平均随访时间9.8年(四分位范围(差)8.3 - -10.2年)。在集团层面,基线6 mwt是49%的预测(差41%—-60%)和22.2 (pp)恶化10年期治疗点(p & lt;0.001)。基线FVC直立的是54%的预测(差47%—-68%),在10年内下降了11页(p & lt;0.001)。影响的ERT MRC得分总和和FVC仰卧的相似。 At the individual level, 93% of patients had initial benefit of ERT. Depending on the outcome measured, 35% to 63% of patients had a secondary decline after ≈3 to 5 years. Still, at 10 years of ERT, 52% had equal or better 6MWT and/or FVC upright compared to baseline.Conclusions The majority of patients with Pompe disease benefit from long-term ERT, but many patients experience some secondary decline after ≈3 to 5 years. Individual variation, however, is considerable.Classification of evidence This study provides Class IV evidence that for the majority of adults with Pompe disease, long-term ERT positively affects, or slows deterioration in, muscle strength, walking ability, and/or pulmonary function.ERT=enzyme replacement therapy; FVC=forced vital capacity; IQR=interquartile range; LOTS=Late-Onset Treatment Study; MEP=maximal expiratory pressure; MIP=maximal inspiratory pressure; MRC=Medical Research Council; M6P=mannose-6-phosphate; pp=percentage points; QMT=quantitative muscle testing; 6MWT=6-minute walk test ER -