Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy.
Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy.
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DOI：
10.1097/cnd.0000000000000333
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发表时间：
2021-03-01
影响因子：
--
通讯作者：
Swift, Dale
中科院分区：
文献类型：
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作者：
Iannaccone, Susan T;Paul, Dustin;Swift, Dale
目的：脊髓性肌萎缩症(SMA)是一种常见的少见的神经肌肉疾病，婴儿期死亡率高，儿童期和青春期发病率高。它是由存活运动神经元基因的常染色体隐性突变引起的。2016年，美国食品和药物管理局批准了第一种疾病修正疗法，适用于任何年龄的所有患者。Nusinesen是一种反义寡核苷酸，在婴儿运动里程碑的实现和儿童大运动功能的改善方面显示出显著的益处。方法：这是2016至2020年间在同一地点使用Nusinesen治疗的所有SMA患者的回顾性图表回顾。结果：我们报告了8例患者，他们接受了Ommaya储液器和腰椎导管的药物输送。并发症包括感染和导管分离导致的翻修。1例患者因位置不同需要透视注射。结论：对于难以进入鞘内间隙的患者，放置Ommaya口是一种可行的选择。实用的创新有可能控制管理成本，实现治疗价值，并促进患者安全。
OBJECTIVE: Spinal muscular atrophy (SMA) is a common rare neuromuscular disease responsible for very high mortality during infancy and high morbidity during childhood and adolescence. It is caused by autosomal recessive mutations in the survival motor neuron gene. In 2016, the Food and Drug Administration approved the first disease modifying therapy for use in all patients of any age. Nusinersen is an antisense oligonucleotide that showed dramatic benefits with achievement of motor milestones in infants and improved gross motor function in children.METHODS: This was a retrospective chart review of all SMA patients seen at a single site between 2016 and 2020 for treatment with nusinersen.RESULTS: We report 8 patients who underwent placement of an Ommaya reservoir and lumbosacral catheter for drug delivery. Complications included infection and revisions due to catheter separation. One patient required fluoroscopy for injections because of location of port site.CONCLUSION: We conclude that placement of an Ommaya port is a viable option for patients who have challenges for access to intrathecal space. Practical innovations have the potential to control administration costs, achieve therapeutic value, and promote patient safety.