Telen Marilyn J
Blood Adv. 2020 Jul 28;4(14):3457-3465. doi: 10.1182/bloodadvances.2020001469.
Sickle cell disease (SCD) places a heavy burden on a global and increasing population predominantly resident in resource-poor and developing countries. Progress continues to be made in preventing childhood mortality, and increasing numbers of chronically ill adults with disease are requiring care for disease sequelae. Curative therapies for SCD are therefore attractive to physicians and investigators focused on SCD. Gene therapies are being developed, and several are now in various stages of early-phase human clinical trials. However, we must also pursue avenues through which we can do the most good for the most people alive today. Such efforts include improving our understanding of disease mechanisms and which disease sequelae most strongly affect survival and interfere with quality of life. The pathways leading to disease sequelae are multiple, complex, and highly interactive. Four drugs have now been approved by the US Food and Drug Administration for SCD; however, each has a distinct mechanism and a measurable but limited effect on the many clinical sequelae of SCD. We therefore need to learn how to approach multi-agent therapy for SCD. The order of addition of each agent to treat a specific patient will need to be guided by response to previous therapy, risk factors identified for specific disease outcomes, and clinical studies to determine more comprehensively how the 4 currently approved drugs might interact and produce (or not) additive effects. Moreover, this will have to be accomplished with defined end points in mind, according to which pose the greatest threats to quality of life as well as survival.
镰状细胞病(SCD)给全球越来越多主要居住在资源匮乏和发展中国家的人口带来了沉重负担。在预防儿童死亡方面持续取得进展,并且越来越多患有慢性病的成年患者需要针对疾病后遗症的护理。因此,SCD的治愈性疗法对专注于SCD的医生和研究人员具有吸引力。基因疗法正在研发中,并且有几种目前正处于早期人体临床试验的不同阶段。然而,我们还必须探索能够为当今在世的大多数人带来最大益处的途径。这些努力包括增进我们对疾病机制的理解,以及了解哪些疾病后遗症对生存影响最大并干扰生活质量。导致疾病后遗症的途径多种多样、复杂且高度相互作用。目前已有四种药物获得美国食品药品监督管理局批准用于治疗SCD;然而,每种药物都有独特的作用机制,对SCD的众多临床后遗症有可测量但有限的效果。因此,我们需要学习如何针对SCD进行多药联合治疗。为特定患者添加每种药物的顺序将需要根据对先前治疗的反应、针对特定疾病结局确定的风险因素以及临床研究来指导,以更全面地确定目前已批准的这四种药物可能如何相互作用并产生(或不产生)相加效应。此外,这必须在明确的终点目标下完成,即确定哪些对生活质量和生存构成最大威胁。