Saffari Afshin, Weiler Markus, Hoffmann Georg Friedrich, Ziegler Andreas
Zentrum für Kinder- und Jugendmedizin, Sektion für Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Deutschland.
Neurologische Klinik, Universitätsklinikum Heidelberg, Heidelberg, Deutschland.
Nervenarzt. 2019 Aug;90(8):809-816. doi: 10.1007/s00115-019-0761-z.
For a long time the treatment of neuromuscular diseases was considered to be purely symptomatic. Due to new technologies in recent years novel causal forms of treatment could be developed. Gene therapies for spinal muscular atrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, myotubular myopathy and hereditary motor and sensory neuropathy type 1A are currently being evaluated in clinical trials. Initial preliminary results are promising and the first preparation onasemnogene abeparvovec-xioi (Zolgensma®) for the treatment of spinal muscular atrophy has recently been approved by the U.S. Food and Drug Administration (FDA).
This review describes the principles of gene therapy, summarizes the interim results published so far and provides an overview of currently active or soon to be initiated gene therapy trials.
Gene therapies have the potential to significantly influence the course of neuromuscular diseases. First positive intermediate results have been published and the first treatment has recently been approved in the USA. Long-term data on sustained effects and toxicity of gene therapies are not yet available. These novel treatment options will present new challenges for the healthcare systems concerning diagnosis, treatment and reimbursement.
长期以来,神经肌肉疾病的治疗被认为纯粹是对症治疗。近年来,由于新技术的出现,开发出了新的病因治疗方法。目前,脊髓性肌萎缩症、杜氏肌营养不良症、肢带型肌营养不良症、肌管性肌病和遗传性运动感觉神经病1A型的基因疗法正在临床试验中进行评估。初步结果令人鼓舞,用于治疗脊髓性肌萎缩症的首个制剂onasemnogene abeparvovec-xioi(Zolgensma®)最近已获得美国食品药品监督管理局(FDA)的批准。
本综述阐述了基因治疗的原理,总结了迄今为止发表的中期结果,并概述了目前正在进行或即将启动的基因治疗试验。
基因疗法有可能显著影响神经肌肉疾病的病程。已发表了首个阳性中期结果,且最近在美国批准了首个治疗方法。关于基因疗法的持续效果和毒性的长期数据尚无可用。这些新的治疗选择将给医疗系统在诊断、治疗和报销方面带来新的挑战。