@article {DayS46.001作者={约翰一天和康妮沃和切尔西·麦克弗森和威廉·马顿斯和迈克尔·麦克德莫特和罗勒结束之后和达里尔德体内Zarazuela Zolkipli坎宁安和理查德·芬克尔和Jacinda桑普森和蒂娜Duong}, title = {Nusinersen功效在成人脊髓性肌萎缩(S46.001)},体积={90}={15}补充数量,elocation-id = {S46.001} ={2018},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},抽象={目的:1。首页评估的有效性临床协议nusinersen治疗成人脊髓性肌萎缩(SMA)。2。评估后处理功能变化与SMA的成年人相比,他们的基线和SMA的自然历史。背景:SMA是一种常染色体隐性疾病影响1:10,000活产,而缺乏运动神经元存活(SMN)蛋白质导致进行性肌肉萎缩,虚弱,和早期死亡率。Nusinersen是第一个FDA批准治疗SMA。临床试验显示在儿童中获益,但是成年人的功效还没有记录。设计/方法:功能和临床措施前瞻性收集成人SMA患者在国际SMA网络,PNCRN,相比之下,nusinersen成年人对待。预先批准访问包括:医学\ &遗传历史,标准的护理,解剖和影像学检查,保险评估。基于保险需求最小数据集和验证结果在SMA包括至少以下之一:CHOP-INTEND, RULM HFMSE,拖船,6 mwt。 We also monitored pulmonary function, strength, patient reported experiences, safety labs and adverse events.Results: Natural history was determined in 170 evaluations of 57 untreated adults. Assessments were obtained in 27 individuals desiring nusinersen, 20 of whom were treated. Individuals were not treated due to insurance denial (1), lack of access via routine fluoroscopy (5), and patient choice (1). Individuals were: 18{\textendash}65 years old, non-ambulatory (75\%), male (57\%), requiring day/night ventilatory support (7), and with spinal fusion (8). Qualitative improvement was frequent (85\%). Baseline measures (median and ranges) included for ambulatory (n=7): 6MWT (367.9m, 69.2{\textendash}466.0m), TUG (9.9sec, 8.4{\textendash}44.2sec) and for non-Ambulatory (n=20) RULM (12.5, 0{\textendash}38), PFT (3.05L, 0.28{\textendash}5.62L).Conclusions: Nusinersen has been well tolerated and improvement trends are emerging in multiple measures; data continue to be collected. Analyses of clinical outcomes, to be presented, will define nusinersen efficacy for adults with SMA.Disclosure: 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. Dr. Wolford has nothing to disclose. Dr. MacPherson has nothing to disclose. Dr. Martens has nothing to disclose. Dr. McDermott has nothing to disclose. 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. 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. 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. Sampson has nothing to disclose. Dr. Duong has nothing to disclose.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/90/15_Supplement/S46.001}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }