Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, United States.
Center for Gene Therapy, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, OH, United States; Department of Pediatrics, College of Medicine, The Ohio State University, Columbus, OH, United States; Department of Neurology, College of Medicine, The Ohio State University, Columbus, OH, United States.
Prog Mol Biol Transl Sci. 2021;182:225-255. doi: 10.1016/bs.pmbts.2021.01.029. Epub 2021 Mar 3.
Duchenne muscular dystrophy (DMD) is a progressive muscle disease caused by loss of dystrophin protein, encoded by the DMD gene. DMD manifests early in childhood as difficulty walking, progresses to loss of ambulation by the teens, and leads to death in early adulthood. Adeno-associated virus-vectorized gene therapies to restore dystrophin protein expression using gene replacement or antisense oligonucleotide-mediated pre-mRNA splicing modulation have emerged, making great strides in uncovering barriers to gene therapies for DMD and other genetic diseases. While this first-generation of DMD therapies are being evaluated in ongoing clinical trials, uncertainties regarding durability and therapeutic efficacy prompted the development of new experimental therapies for DMD that take advantage of somatic cell gene editing. These experimental therapies continue to advance toward clinic trials, but questions remain unanswered regarding safety and translatable efficacy. Here we review the advancements toward treatment of DMD using gene editing and modulation therapies, with an emphasis on those nearest to clinical applications.
杜氏肌营养不良症(DMD)是一种渐进性肌肉疾病,由 DMD 基因突变导致抗肌萎缩蛋白缺失引起。DMD 患儿在儿童早期出现行走困难,青少年时丧失行走能力,并在成年早期导致死亡。目前已出现使用腺相关病毒载体进行基因治疗的方法,通过基因替换或反义寡核苷酸介导的前体 mRNA 剪接调控来恢复抗肌萎缩蛋白的表达,这些方法在揭示 DMD 和其他遗传性疾病基因治疗的障碍方面取得了重大进展。虽然第一代 DMD 疗法正在进行临床试验,但由于对耐久性和治疗效果的不确定性,促使人们开发了利用体细胞基因编辑的新型实验性 DMD 疗法。这些实验性疗法仍在向临床试验推进,但关于安全性和可转化疗效的问题仍未得到解答。本文重点讨论了最接近临床应用的基因编辑和调控疗法在治疗 DMD 方面的进展。