脊髓性肌萎缩症(SMA)是一种遗传性疾病,可导致婴儿和儿童的随意性肌肉无力和消瘦。SMA一直是婴儿死亡的主要遗传原因。更具体地说,SMA是由SMN1基因的缺失引起的。2019年5月,美国食品和药物管理局(FDA)批准了asemnogeneabeparvovec,SMN1基因替代疗法,对于所有小于两岁的SMA儿童,没有最后阶段的弱点。该研究的目的是回顾一种新型基因疗法的安全性和有效性,阿贝帕沃维奇(Zolgensma),用于SMA并评估基因治疗当前的挑战。为此,我们在PubMed上进行了文献检索,MEDLINE,和Ovid(2019年至2022年)在英语中使用术语SMA,onasemnogene,和基因治疗。搜索包括文章,网站,并发表了来自知名卫生组织的论文,医院,以及致力于提高脊髓性肌萎缩意识的全球组织。我们发现SMA的第一个基因疗法是一种基因,直接提供存活运动神经元1(SMN1)基因以产生存活运动神经元(SMN)蛋白。Onasemnogene已获得食品和药物管理局的批准,并且具有一次性剂量的额外好处。不利的一面是,这种治疗的主要副作用是肝毒性。有大量证据表明,对三个月以下的儿童进行早期给药时,治疗的功效会增加。因此,我们的结论是,onasemnogene似乎是年轻的1型SMA患儿的有效治疗方法.药物成本和潜在的肝毒性是主要问题。长期利益和风险尚未确定,但与其他使用的药物相比,它更具成本效益,需要更少的治疗时间,Nusinersen.因此,综合安全,成本,和抗癌基因的有效性使其成为治疗1型SMA的可靠治疗选择。
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death. More specifically, SMA is caused by the absence of the SMN1 gene. In May 2019, the Food and Drug Administration (FDA) approved onasemnogene abeparvovec, SMN1 gene replacement therapy, for all children with SMA younger than two years of age, without end-stage weakness. The objective of the study is to
review the safety and efficacy of a novel gene therapy, onasemnogene abeparvovec (Zolgensma), for SMA and assess current challenges for gene therapy. For this, we have conducted a literature search on PubMed, MEDLINE, and Ovid (2019 to 2022) in the English language using the terms SMA, onasemnogene, and gene therapy. The search included articles, websites, and published papers from reputable health organizations, hospitals, and global organizations dedicated to bringing awareness to Spinal Muscular Atrophy. We found the first gene therapy for SMA to be onasemnogene, directly providing the survival motor neuron 1 (SMN1) gene to produce the survival motor neuron (SMN) protein. Onasemnogene is approved by the Food and Drug Administration and has the added benefit of being a one-time dose. On the downside, a major side effect of this treatment is hepatotoxicity. There is substantial evidence that the efficacy of therapy is increased when administered early to children under three months of age. Therefore, we concluded that onasemnogene appears to be an efficacious therapy for younger pediatric patients with SMA type 1. Drug cost and potential hepatotoxicity are major concerns. Long-term benefits and risks have not been determined, but it is more cost-effective and requires less time of treatment compared to the other used drug, nusinersen. Therefore, the combined safety, cost, and effectiveness of onasemnogene abeparvovec make it a reliable treatment option for treating SMA Type 1.