Gene therapy is the delivery of a therapeutic gene for endogenous cellular expression with the goal of rescuing a disease phenotype. It has been used to treat an increasing number of human diseases with many strategies proving safe and efficacious in clinical trials. Gene delivery may be viral or non-viral, performed in vivo or ex vivo, and relies on gene integration or transient expression; all of these techniques have been applied to the treatment of Fabry disease. Fabry disease is a genetic disorder of the α-galactosidase A gene, GLA, that causes an accumulation of glycosphingolipids in cells leading to cardiac, renal and cerebrovascular damage and eventually death. Currently, there are no curative treatments available, and the therapies that are used have significant drawbacks. These treatment concerns have led to the advent of gene therapies for Fabry disease. The first Fabry patients to receive gene therapy were treated with recombinant lentivirus targeting their hematopoietic stem/progenitor cells. Adeno-associated virus treatments have also begun. Alternatively, the field of gene-editing is a new and rapidly growing field. Gene-editing has been used to repair disease-causing mutations or insert genes into cellular DNA. These techniques have the potential to be applied to the treatment of Fabry disease provided the concerns of gene-editing technology, such as safety and efficiency, were addressed. This review focuses on the current state of gene therapy as it is being developed for Fabry disease, including progresses and challenges as well as an overview of gene-editing and how it may be applied to correct Fabry disease-causing mutations in the future.

基因治疗是递送用于内源性细胞表达的治疗性基因，目的是挽救疾病表型。它已被用于治疗越来越多的人类疾病，许多策略在临床试验中被证明是安全有效的。基因传递可以是病毒或非病毒的，在体内或离体进行，并依赖于基因整合或瞬时表达；所有这些技术都已应用于法布里病的治疗。法布里病是 α-半乳糖苷酶 A 基因 ( GLA)的遗传性疾病，这会导致细胞中糖鞘脂的积累，从而导致心脏、肾脏和脑血管损伤并最终导致死亡。目前，没有可用的治愈性治疗方法，并且所使用的疗法有明显的缺点。这些治疗问题导致法布里病基因疗法的出现。第一批接受基因治疗的法布里患者接受了针对其造血干细胞/祖细胞的重组慢病毒治疗。腺相关病毒治疗也已开始。或者，基因编辑领域是一个新兴且发展迅速的领域。基因编辑已被用于修复致病突变或将基因插入细胞 DNA。这些技术有可能应用于法布里病的治疗，前提是基因编辑技术值得关注，安全和效率等问题得到了解决。本综述侧重于针对法布里病开发的基因疗法的现状，包括进展和挑战，以及基因编辑的概述以及它如何应用于纠正未来的法布里病致病突变。