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兑现基因治疗血友病的承诺。

Delivering on the promise of gene therapy for haemophilia.

机构信息

Pediatrics and Pathology, University of Michigan, Ann Arbor, Michigan, USA.

出版信息

Haemophilia. 2021 Feb;27 Suppl 3:114-121. doi: 10.1111/hae.14027. Epub 2020 Jun 3.

Abstract

The promise of gene therapy is a single treatment ('one and done') that leads to steady-state expression of endogenous factor VIII or factor IX sufficient to achieve a functional cure (free of recurrent haemophilic bleeding) if not normalized haemostasis. The elimination of the need for continued prophylaxis, or factor replacement following trauma or prior to surgery would lead to annual cost savings. Such optimized health and well-being would be reaching a level of health equity that was unimaginable several decades ago. 'Before anything else, preparation is the key to success'-Alexander Graham Bell. This quote from the famous inventor, scientist and engineer highlights that, although we currently stand on the threshold of this achievement, delivering on this promise will require broad-based multistakeholder preparation (scientists, manufacturers, federal regulators, health technology assessors, persons with haemophilia, national advocacy groups and multidisciplinary healthcare teams) with a focused emphasis on education, approval of safe and effective therapies, removal of barriers to access and excellence in clinical delivery.

摘要

基因治疗的承诺是单次治疗(“一劳永逸”),可导致内源性 VIII 因子或 IX 因子的稳定表达,足以实现功能性治愈(无复发性血友病出血),即使未达到正常止血。消除对持续预防或创伤后或手术前因子替代的需求,将带来年度成本节约。这种优化的健康和福祉将达到几十年前难以想象的健康公平水平。“首先,准备是成功的关键”-亚历山大·格雷厄姆·贝尔。这位著名发明家、科学家和工程师的这句话强调了,尽管我们目前正处于这一成就的门槛上,但要实现这一承诺,需要广泛的多方利益相关者准备(科学家、制造商、联邦监管机构、卫生技术评估人员、血友病患者、国家宣传团体和多学科医疗团队),重点是教育、安全有效的治疗方法的批准、消除获取障碍和卓越的临床服务。

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