Progress towards gene therapy for haemophilia B.
Progress towards gene therapy for haemophilia B.
复制标题
B型血友病基因治疗的进展。
DOI：
10.1007/s12185-014-1523-0
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发表时间：
2014
影响因子：
2.1
通讯作者：
Nathwani,AmitC
中科院分区：
文献类型：
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作者：
Patel,Nishil;Reiss,Ulrike;Davidoff,AndrewM;Nathwani,AmitC
血友病B是一种X连锁隐性出血性疾病，由凝血因子IX缺乏引起。自从1982年因子IX基因被克隆以来，它一直是基因治疗的靶点。在过去的30年里，已经在人类中评估了几种不同的方法，但直到最近才对人类的出血表型进行了切实的纠正。我们的小组现在已经表明，在血友病B患者中出血表型的持久临床改善在单次全身施用自身互补腺相关病毒载体以将优化的因子IX表达盒递送至肝脏后是可能的。这项试验的成功为重度血友病B患者以及其他目前治疗选择有限的遗传性单基因肝脏疾病患者带来了希望。
Haemophilia B is an X-linked recessive bleeding disorder, arising from a deficiency of coagulation factor IX. It has been a target for gene therapy ever since the factor IX gene was cloned in 1982. Several distinct approaches have been evaluated in humans over the last 30 years, but none has resulted in tangible corrections of the bleeding phenotype in humans until recently. Our group has now shown that lasting clinical improvement of the bleeding phenotype in patients with haemophilia B is possible following a single systemic administration of a self-complementary adeno-associated virus vector to deliver an optimised factor IX expression cassette to the liver. Success in this trial raises hope for patients with severe haemophilia B as well as others with inherited monogenetic disorders of the liver where current treatment options are limited.