Spinraza(nusinersen)注射剂-为全球首个解决罕见疾病紧急医学需要的新治疗
2016年12月23日美国食品和药品监管局批准Spinraza (nusinersen)，被批准治疗有脊髓肌肉萎缩(SMA)儿童和成年第一个药物，一种罕见和往往致命性遗传疾病影响肌肉力量和运动。Spinraza是一种注射给予至脊髓周围液体。
FDA的药品评价和研究中心中神经学产品部主任Billy Dunn，M.D.说：“长期以来需要对婴儿中死亡最常见原因脊髓性肌肉萎缩的治疗，和可以影响人们在任何生活阶段的疾病，” “如同我们对承办单位建议比计划更早分析研究结果的建议所示，FDA是致力于协助发展和批准对罕见病安全和有效药物和努力工作快速审评这个应用；我们无比高兴对这个致人衰弱疾病的首次批准。”
SMA是一种遗传性疾病致肌肉软弱和废用因为丧失控制较低运动神经元。在发病年龄，症状和进展速率中存在宽广变异性。Spinraza被批准跨越脊髓肌肉萎缩患者范围使用。
在承办单位开发期间FDA密切工作帮助设计和实施该批准所依据的分析。在121例患者在月龄6个月被诊断的有婴儿发病的SMA和在他们首次给药时低于7个月的临床试验中显示Spinraza的疗效。患者被随机化接受一次Spinraza注射，至脊髓周围液体，或经历无药物注射的模拟程序(皮肤刺痛)。接受Spinraza患者数目与进行模拟程序患者比较为两倍。试验评估运动基本单元[motor milestones]，例如控制头，坐，在仰卧位能踢[kick]，滚动，爬行，站和走改善患者的百分率。
FDA要求承办单位进行一项中期分析作为一种方法尽可能早评价研究结果；82/121例患者是对这项分析合格。用Spinraza治疗40%患者实现在本研究定义的运动基本单元改善，而对照患者无一例实现。.
另外进行开放非对照临床研究在症状性患者在首次剂量时年龄范围从30 天至15岁，和在症状前患者其年龄在首次剂量时范围从8 天至42天。这些研究缺乏对照组和因此比对照研究更难以解释，单发现似乎一般地支持在婴儿发病患者临床试验显示的临床疗效。
在用Spinraza临床试验中参加者中发现的最常见副作用是上呼吸道感染，下呼吸道感染和便秘。警告和注意事项包括低血小板计数和肾毒性。在动物研究中观察到神经系统毒性。
FDA授权这项申请快速通道指定和优先审评。药物还接受孤儿药物指定，它提供奖励有助于和鼓励对罕见疾病药物的开发。
承担单位正在一个程序意向鼓励开发新药和生物制品为预防和治疗罕见儿童疾病下接受一项罕见的儿科疾病优先审查凭证。承办单位在以后日期可得到兑现一个凭证不同产品接受随后上市申请优先审评。这是自FDA开始程序第八个罕见儿科疾病优先审查凭证。
Spinraza是由，麻省剑桥的Biogen公司上市和由加州Carlsbad的Ionis Pharmaceuticals 公司发展。

SPINRAZA is the only approved treatment for SMA.
ABOUT SPINRAZA (nusinersen)
SPINRAZA is an antisense oligonucleotide (ASO) that is designed to treat SMA caused by mutations in the chromosome 5q that leads to SMN protein deficiency. It was discovered and co-developed by Ionis Pharmaceuticals, a leader in antisense therapeutics, and Biogen. SPINRAZA is designed to selectively bind to and alter the splicing of a single RNA from the SMN2 gene, a gene that is nearly identical to SMN1, in order to increase production of full length SMN protein.  ASOs are short synthetic strings of nucleotides designed to selectively bind to target RNA and regulate gene expression. Through use of this technology, SPINRAZA has the potential to increase the amount of functional SMN protein in infants and children with SMA.
SPINRAZA is administered via intrathecal injection, which delivers therapies directly to the cerebrospinal fluid (CSF) around the spinal cord, where motor neurons degenerate in patients with SMA due to insufficient levels of SMN protein.
The most common adverse reactions reported for SPINRAZA were upper respiratory infection, lower respiratory infection and constipation. Serious adverse reactions of atelectasis were more frequent in SPINRAZA-treated patients. Coagulation abnormalities and thrombocytopenia, including acute severe thrombocytopenia, have been observed after administration of some antisense oligonucleotides. Renal toxicity, including potentially fatal glomerulonephritis, has been observed after administration of some antisense oligonucleotides.
Both the U.S. and E.U. granted SPINRAZA Orphan Drug status. Additionally, both the U.S. and E.U. regulatory agencies granted special status to SPINRAZA, including Fast Track Designation and Priority Review in the U.S. and Accelerated Assessment status in the E.U.
Biogen exercised its option to worldwide rights to SPINRAZA in August 2016.
Biogen and Ionis Pharmaceuticals acknowledge support from the following organizations for SPINRAZA: Cure SMA, Muscular Dystrophy Association, and SMA Foundation, intellectual property licensed from Cold Spring Harbor Laboratory and the University of Massachusetts Medical School.
THE SPINRAZA PHASE 3 REGISTRATIONAL STUDY, ENDEAR
ENDEAR was a randomized, double-blind, sham-controlled study in patients with infantile-onset (most likely to develop Type 1) SMA. At a planned interim analysis of ENDEAR, a greater percentage of infants treated with SPINRAZA achieved a motor milestone response compared to those who did not receive treatment (40% versus 0%; p
http://www.accessdata.fda.gov/drugsatfda_docs/label/2016/209531lbl.pdf