Butt Henna, Sathish Shruti, London Evan, Lee Johnson Taylor, Essawi Khaled, Leonard Alexis, Tisdale John F, Demirci Selami
Cellular and Molecular Therapeutics Branch (CMTB), National Heart Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD 20814, USA.
Department of Medical Laboratory Technology, College of Applied Medical Sciences, Jazan University, Gizan 45142, Saudi Arabia.
Mol Ther. 2025 May 7;33(5):2154-2171. doi: 10.1016/j.ymthe.2025.03.047. Epub 2025 Mar 30.
Sickle cell disease (SCD) includes a range of genotypes that result in a clinical syndrome, where abnormal red blood cell (RBC) physiology leads to widespread complications affecting nearly every organ system. Treatment strategies for SCD can be broadly categorized into disease-modifying therapies and those aimed toward a cure. Although several disease-modifying drugs have been approved, they do not fully address the complexity and severity of SCD. Recent advances in allogeneic transplantation and autologous gene therapy show promising outcomes in terms of efficacy and safety. While these approaches have improved the lives of many patients, achieving a durable and comprehensive cure for all remains challenging. To address this, gene-editing technologies, including zinc-finger nucleases, TALENs, CRISPR-Cas, base editing, and prime editing, have been explored both ex vivo and in vivo for targeted correction of the β-globin gene (HBB) in SCD. However, direct correction of HBB and its translation from the laboratory to the clinic presents ongoing limitations, with challenges involved in achieving robust mutation-correction efficiency, off-target effects, and high costs of therapies. The optimal strategy for curing SCD remains uncertain, but several promising approaches are emerging. This review touches on past, present, and future developments in HBB correction.
镰状细胞病(SCD)包括一系列导致临床综合征的基因型,其中异常的红细胞(RBC)生理学导致广泛的并发症,几乎影响到每个器官系统。SCD的治疗策略大致可分为疾病改善疗法和旨在治愈的疗法。尽管几种疾病改善药物已获批准,但它们并未完全解决SCD的复杂性和严重性。异基因移植和自体基因治疗的最新进展在疗效和安全性方面显示出有前景的结果。虽然这些方法改善了许多患者的生活,但实现对所有人的持久和全面治愈仍然具有挑战性。为了解决这个问题,包括锌指核酸酶、转录激活因子样效应物核酸酶(TALENs)、规律成簇间隔短回文重复序列及其相关蛋白(CRISPR-Cas)、碱基编辑和引导编辑在内的基因编辑技术已在体外和体内进行探索,用于在SCD中靶向校正β-珠蛋白基因(HBB)。然而,HBB的直接校正及其从实验室到临床的转化目前仍存在局限性,在实现强大的突变校正效率、脱靶效应和高昂的治疗成本方面存在挑战。治愈SCD的最佳策略仍不确定,但一些有前景的方法正在出现。本综述涉及HBB校正的过去、现在和未来发展。