Pipe Steven W
Departments of Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan.
Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26865. Epub 2017 Oct 27.
Individuals with the inherited bleeding disorder hemophilia have achieved tremendous advances in clinical outcomes through widespread implementation of prophylactic replacement with safe and efficacious factor VIII and IX. However, despite this therapeutic approach, bleeds still occur, some with serious consequence, joint disease has not been eradicated, and patients have not yet been liberated from the need for regular intravenous infusions. The shift from protein replacement to gene replacement is offering great hope to achieve durable levels of plasma factor activity levels high enough to remove the risk for recurrent joint bleeding. For the first time, clinical trial results are showing promise for "curative" correction of the bleeding phenotype.
患有遗传性出血性疾病血友病的个体，通过广泛实施使用安全有效的凝血因子 VIII 和 IX 进行预防性替代治疗，在临床治疗效果方面取得了巨大进展。然而，尽管采用了这种治疗方法，出血情况仍会发生，有些还会产生严重后果，关节疾病尚未根除，患者仍未摆脱定期静脉输注治疗的需求。从蛋白质替代治疗向基因替代治疗的转变，为实现持久的血浆因子活性水平带来了巨大希望，该活性水平足以消除复发性关节出血的风险。首次有临床试验结果显示有望对出血表型进行“治愈性”纠正。
