文摘
摘要目的:脊髓性肌萎缩(SMA)是最近添加到建议统一筛选面板,推荐给国家的疾病列表屏幕作为国家的一部分,新生儿筛查(国家统计局)项目。由于SMA礼物在不同严重程度,决定立即治疗或诊断后必须等待。SMN2已经被证明可以减少疾病严重程度存在剂量依赖的相关性,因此SMN2拷贝数是疾病严重程度的预测。
背景:SMA是一种常染色体隐性疾病的特点是α运动神经元的变性脊髓,导致肌肉萎缩。SMA是由缺失或突变运动神经元生存基因(SMN1) 1。在人类,几乎相同的复制基因,SMN2,存在。
设计/方法:工作组由15 SMA专家参与修改德尔福过程,由一个中立的第三方专家,开发治疗指南。
结果:所有婴儿的包罗万象的建议是两个或三个副本SMN2应该立即接受治疗(n = 13)。最初出版的时候,工作组没有达成共识的直接治疗患者四SMN2副本,因为这些患者不出现早或一样严重的一种SMA患者较低的拷贝数。新的临床数据的出现使得工作组后,以形成一个婴儿推荐4 SMN2的副本。这些结果将在这里。
结论:SMA的识别受影响的婴儿通过新生儿筛查的成就提供了前所未有的机会通过治疗pre-symptomatically管理最大的治疗效果。这里提供的建议,旨在帮助制定治疗指南的新生儿筛查过程中检测呈阳性的婴儿。
披露:Glascock博士没有披露。桑普森博士没有披露。Connolly博士没有披露。博士结束之后收到个人赔偿咨询、担任科学顾问委员会说,与AveXis或其他活动,生原体,百时美施贵宝,Cytokinetics,马拉松,PTC疗法,罗氏,Santhera, Sarepta。博士结束之后已经收到了来自美国国立卫生研究院的研究支持/国家神经疾病和中风研究所,为SMA Slaney家族基金,致力于走基金,SMA的基础;CureSMA、Ionis制药公司和生原体,AveXis, Cytokinetics Fibrogen, PTC(列车自动控制系统)。博士一天已收到个人赔偿咨询、担任科学顾问委员会说,与顾问AMO制药或其他活动,AveXis,生原体,Cytokinetics, Ionis制药、公司、辉瑞、罗氏、Santhera, Sarepta . .博士一天收到了皇室,许可费用,或从专利许可合同权利支付到雅典娜的基因检测诊断肌强直性营养不良2型(美国专利7442782)和脊髓小脑的共济失调型5(美国专利7527931)。天已收到博士研究支持从AMO制药公司资助,aTyr, AveXis,生原体,百时美施贵宝,Cytokinetics, Ionis制药、Inc .,罗氏,Sanofi-Genzyme, Sarepta . .芬克尔博士已经收到个人赔偿咨询、担任科学顾问委员会说,或其他活动的顾问费用和Ionis制药,inc .的喜爱和珍惜; advisor to AveXis, Novartis, and Roche; data safety monitoring board for the AveXis AVX-101 Phase 1 gene transfer study and Roche Moonfish Phase 1b study; advisory capacit. Dr. Finkel has received compensation for serving on the Board of Directors of Royalty payments from Children’s Hospital of Philadelphia for licensing fees obtained for use of the CHOP INTEND motor function scale. Dr. Finkel has received royalty, license fees, or contractual rights payments from Royalty payments from Children’s Hospital of Philadelphia for licensing fees obtained for use of the CHOP INTEND motor function scale. Dr. Finkel has received research support from grants from Biogen and Ionis Pharmaceuticals, Inc. during ENDEAR and CHERISH; grants from AveXis, Cytokinetics, and Roche. Dr. Howell has nothing to disclose. Dr. Klinger has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Sanofi. Dr. Kuntz has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Advisory boards for Argenyx, Audentes, AveXis, Biogen, Cytokinetics, PTC, Roche, and Sarepta.. Dr. Kuntz has received research support from Clinical trial research contracts with Audentes, AveXis, Biogen, Pfizer, Roche, and Sarepta.. Dr. Prior has nothing to disclose. Dr. Shieh has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Audentes, Sarepta, Pfizer, Genentech, Avexis, Biogen, Catalyst, Argenyx, Alexion, CSL Behring, Grifols. Dr. Shieh has received research support from Sarepta, Pfizer, Audentes, Avexis, Biogen, PTC, Roche, Sanofi, Reveragen, Acceleron.Dr. Crawford has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with AveXis, Biogen, Catalyst, Cure SMA, Cytokinetics, Marathon, Muscular Dystrophy Association, Novartis, Roche, Sarepta, Scholar Rock, and the Spinal Muscular Atrophy Foundation. Dr. Kerr has nothing to disclose. Dr. Jarecki has nothing to disclose.
