Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.
复制标题
出生后尽早进行基因疗法治疗脊髓性肌萎缩症非常有效。
DOI：
10.1016/j.ymgmr.2023.100973
复制
发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Nakamura K.
中科院分区：
文献类型：
--
作者：
Sawada T;Kido J;Yae Y;Yuge K;Nomura K;Okada K;Fujiyama N;Ozasa S;Nakamura K.
脊髓性肌萎缩症（spinal muscular atrophy，SMA）是一种以肌萎缩和进行性肌无力为特征的神经肌肉疾病.日本保险批准的治疗方法包括反义寡核苷酸治疗、基因治疗和小分子治疗。这些疗法的疗效不同，这取决于治疗initiation.Case presentationWe报告的情况下，两个婴儿与SMA出生在同一地区的时间。患者1有两个SMN2拷贝，在新生儿筛查（NBS）开始前出生，并在4个月大时接受了Onasemnogene abeparvovec治疗。患者2有三个SMN2拷贝，出生于NBS开始后，在症状出现前诊断并接受了onasemnogene abeparvovec治疗。不幸的是，患者1成为卧床不起，尽管接受基因治疗，而患者2实现了正常的运动development.DiscussionOur的研究结果表明，治疗时机是一个重要因素，影响患者的运动神经发育的结果，虽然我们的患者有差异的拷贝数ofSMN2。因此，应该建立一个系统，允许所有新生儿接受公共资助的SMA NBS。
IntroductionSpinal muscular atrophy (SMA) is a neuromuscular disease characterized by muscle atrophy and progressive muscle weakness. Insurance-approved treatments in Japan include antisense oligonucleotide therapy, gene therapy, and small molecule therapy. The efficacy of these therapies varies depending on the timing of treatment initiation.Case presentationWe report the cases of two infants with SMA born in the same region. Patient 1, who had two copies ofSMN2, was born before newborn screening (NBS) was started and received onasemnogene abeparvovec therapy at the age of 4 months. Patient 2, who had three copies ofSMN2, was born after the start of NBS and was diagnosed and treated with onasemnogene abeparvovec before symptoms appeared. Unfortunately, Patient 1 became bedridden despite receiving gene therapy, while Patient 2 achieved normal motor development.DiscussionOur findings show that treatment timing is an essential factor affecting patients' motor neurodevelopmental outcomes, although our patients did have differences in the number of copies ofSMN2. Therefore, a system should be established to allow all newborns to undergo publicly funded NBS for SMA.
影响因子：
2.8
作者：
Boemer, Francois;Caberg, Jean-Hubert;Servais, Laurent
通讯作者：
Servais, Laurent
影响因子：
3.5
作者：
Hale K;Ojodu J;Singh S
通讯作者：
Singh S