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基于CRISPR的基因疗法:从临床前治疗到临床治疗

Marine Laurent¹, Marine Geoffroy², Giulia Pavani³

¹INTEGRARE, UMR_S951, Genethon, Inserm, Univ Evry, Université Paris-Saclay, 91190 Evry, France.

|May 24, 2024

概括

基因编辑CRISPR显示出对血液和肌肉疾病的希望. 虽然在状细胞疾病等血液疾病中取得了成功,但杜申尼肌肉衰竭治疗仍然存在挑战,包括分娩和安全性.

科学领域:

生物技术和遗传学
基因编辑技术的技术
治疗应用治疗应用

背景情况:

聚类定期间隔的短平行体重复 (CRISPR) 和与CRISPR相关的 (Cas) 蛋白质提供了革命性的基因编辑能力.
遗传血液和神经肌肉疾病对遗传疗法提出了重大挑战.
克里斯普尔/卡斯9技术正在快速发展,在血液学和神经肌肉领域取得了明显的进步.

研究的目的:

审查基于CRISPR的技术在临床前和临床环境中的多样化应用,用于单一性血液疾病和肌肉发育不良.
为了比较这些不同的疾病的CRISPR疗法翻译的进展,困难和挑战.
突出CRISPR基因编辑在遗传性疾病中的当前趋势和未来方向.

主要方法:

关于CRISPR/Cas9在血液和神经肌肉遗传疾病中的应用的临床前和临床研究的审查.
治疗策略的分析,包括血造干细胞的ex vivo修饰和体内基因校正方法.
评估与输送方法,安全性,免疫反应和长期疗效相关的挑战.

主要成果:

克里斯普尔/Cas9加速了血液疾病的基因疗法,取得了显著的临床试验成功,并获得了关于状细胞疾病和β-血病的FDA批准.
克里斯普尔/Cas9已经使得杜申肌缩症 (DMD) 的先进细胞和动物模型的开发成为可能,促进了临床前研究.
在DMD动物模型中,已有恢复双氨酸生产的有希望的结果,但在体内输送和安全性方面仍然存在重大障碍.

结论:

克里斯普尔/卡斯9技术证明了血液和肌肉遗传疾病使人衰弱的患者的变革潜力.
对于血液与神经肌肉疾病,CRISPR疗法的临床转化进展不同,这是由于每个领域的独特挑战.
目前正在进行的研究和临床试验对于解决广泛采用CRISPR治疗的安全性,疗效,基因毒性和免疫问题至关重要.

关键词:

这就是CRISPR/Cas9的作用.杜申尼肌肉发育不良症杜申尼肌肉发育不良症血液疾病血液疾病基因编辑基因编辑神经肌肉疾病神经肌肉疾病在β-hemoglobinopathies的治疗中.

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