TY -的T1 -费城儿童医院的婴儿的神经肌肉疾病(切意愿)可行性测试第二个人有严重脊髓性肌肉萎缩症(S46.004) JF -神经学乔-神经学六世- 90 - 15补充SP - S46.004 AU -伊丽莎白Kichula AU -蒂娜Duong AU -艾伦Glanzman盟-艾米·帕斯捷尔纳克盟罗勒结束之后非盟-理查德·芬克尔盟Darryl De Vivo盟Za首页razuela Zolkipli-Cunningham盟——约翰·天Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/S46.004.abstract N2 -目的:NABackground:结果衡量发展脊髓性肌萎缩(SMA)都集中在临床试验准备,现在存在在所有SMA类型。然而,粗大运动评价老年严重弱SMA患者仍然是一个挑战。切意愿是验证电机测量结果为弱开发婴儿1型SMA。这里我们展示它的潜在效用的一组子的切为一系列的个人意愿物品2型SMA与分数扩大哈默史密斯功能汽车规模(HFMSE) 2或更少。设计/方法:我们回顾了砍13个人意愿和HFMSE分数(年龄7-40)2型SMA的HFMSE分数≤2。的目标是确定分布的分数子集砍意愿是更广泛的比HFMSE分数,表明2型SMA管理严重时增强敏感性。定性评估与测试相关的困难有经验和临床推理non-infants讨论了在物理治疗师来确定主题。结果:八个人得分0 HFMSE和5分1或2主要反映最小腿运动。切意愿得分中位数是16.1(差10-22)。两个病人Spinraza加载剂量后重新测试和改进从23日至31日和27日至29日而HFMSE保持在0。项目11、15和16(要求暂停)在老年人导致无法测试得分为0。结论:切意愿变化可能更敏感的粗大运动功能和肌肉力量在2型SMA患者由于HFMSE地板效应,并可能成为一种可靠的措施长期跟进。 Longitudinal assessment to evaluate the sensitivity of a subset of the CHOP INTEND to detect change over time in weak SMA individuals is required.Disclosure: Dr. Kichula has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Avexis. Dr. Duong has nothing to disclose. Dr. Glanzman has nothing to disclose. Dr. Pasternak has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Scientific advisory board for Avexis Pharmaceuticals. Dr. Darras has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Dr. Darras has served as an ad hoc scientific advisory board member for AveXis, Biogen, Cytokinetics, Marathon Pharmaceuticals, PTC Therapeutics, Roche, and Sarepta; and has been an advisor for Bristol-Myers Squibb and Ionis Pharmaceuticals, Inc.; he has. Dr. Darras has received research support from Dr. Darras has received research support from from Ionis Pharmaceuticals, Inc. for the ENDEAR, CHERISH, CS2/CS12 studies, from Biogen for CS11 , as well as from Cytokinetics, PTC Therapeutics, Fibrogen and Summit. Dr. Finkel has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Consulting fees and travel costs from AveXis, Biogen, Catabasis, Ionis, Mitobridge, and Summit. Dr. Finkel has received research support from My institution received research support to perform clinical trials from Biogen, BMS, Catabasis, Cytokinetics, Ionis, Lilly, ReveraGen, Sarepta, and Summit. Dr. De Vivo has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Consulting/Advisory Board membership with AveXis, Biogen, Sarepta, PTC, Cytokinetics, Ultragenyx, and Sanofi. Dr. De Vivo has received research support from Clinical trials support from Sarepta, PTC, Ultragenyx, and Biogen, animal model licensing to Sanofi. Dr. Zolkipli-Cunningham has nothing to disclose. Dr. Day has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with AMO, Audentes, AveXis, Biogen, Cytokinetics, Pfizer, Santhera, Sarepta. ER -