Ataga Kenneth I, Desai Payal C
Division of Hematology/Oncology, University of North Carolina, Chapel Hill, NC.
#Division of Hematology, The Ohio State University, Columbus, OH.
Expert Opin Orphan Drugs. 2018;6(5):329-343. doi: 10.1080/21678707.2018.1471983. Epub 2018 May 14.
Sickle cell disease (SCD) is an orphan disease in the United States, but is highly prevalent worldwide. Only two drugs, hydroxyurea and L-glutamine, are approved for this disease. With an improved understanding of the pathophysiology of SCD as well as the success of several recently approved drugs for other orphan diseases, there is an increased interest in the development of drugs for SCD.
This review summarizes published studies of drug therapies and ongoing trials of novel agents.
The development of drugs with different mechanisms of action offers opportunities for combination and individualized therapy in SCD. In addition to acute pain crisis, the evaluation of other SCD-related complications, exercise capacity, patient reported outcomes and validated surrogate endpoints are necessary to advance drug development. It is important to involve sites in sub-Saharan Africa and India, which have the highest burden of SCD, in trials of novel therapies.
镰状细胞病（SCD）在美国是一种罕见病，但在全球范围内高度流行。目前仅有两种药物，即羟基脲和L-谷氨酰胺，被批准用于治疗该疾病。随着对SCD病理生理学的深入了解，以及近期几种治疗其他罕见病的药物获批成功，人们对开发治疗SCD的药物兴趣日益浓厚。
本综述总结了已发表的药物治疗研究以及新型药物的正在进行的试验。
开发具有不同作用机制的药物为SCD的联合治疗和个体化治疗提供了机会。除了急性疼痛危象外，评估其他与SCD相关的并发症、运动能力、患者报告的结局以及经过验证的替代终点对于推进药物开发至关重要。让撒哈拉以南非洲和印度这些SCD负担最重的地区参与新型疗法的试验非常重要。
