Nusinersen for SMA: expanded access programme
Nusinersen for SMA: expanded access programme
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DOI：
10.1136/jnnp-2017-317412
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发表时间：
2018-09-01
影响因子：
11
通讯作者：
Ryan, Monique M.
中科院分区：
文献类型：
--
作者：
Farrar, Michelle A.;Teoh, Hooi Ling;Ryan, Monique M.
脊髓性肌萎缩症（SMA）是一种破坏性的运动神经元疾病，导致进行性肌肉无力和呼吸功能不全。我们介绍了澳大利亚实施扩大准入计划（EAP）的初步经验，以使nusinersen（第一种用于1型SMA的疾病修饰疗法）获得预先批准。方法2016年11月至2017年9月，澳大利亚一项多中心、开放标签的nusinersen EAP纳入了婴儿期发病的1型SMA患者。为所有患者提供了标准的医疗治疗和鞘内麻醉治疗。评估临床和诊断特征、分子遗传学、治疗方法和功能性运动结果。结果20例1型SMA患者符合纳入标准，其中16例患者同意并接受了nusinersen治疗。从症状出现到诊断的中位时间为5.0个月，且与发病年龄相关(r=0.54， P
Background Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.Methods An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017. Standard-of-care medical therapy and treatment with intrathecal nusinersen were provided to all patients. Clinical and diagnostic characteristics, molecular genetics, treatment administered, and functional motor outcomes were assessed.Results A total of 20 patients with SMA type 1 met the inclusion criteria, of whom 16 consented and received nusinersen treatment. Median time to diagnosis from symptom onset was 5.0 months and was correlated with age of onset (r=0.54, P