• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

RNA 疗法治疗血友病的创新。

Innovations in RNA therapy for hemophilia.

机构信息

Division of Hematology Oncology, Department of Medicine, University of Pittsburgh, Hemophilia Center of Western Pennsylvania, Pittsburgh, PA.

Division of Cardiology, Department of Medicine, Vascular Medicine Institute, Pittsburgh, PA.

出版信息

Blood. 2023 Nov 9;142(19):1613-1621. doi: 10.1182/blood.2022018661.

DOI:10.1182/blood.2022018661
PMID:37478403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10862240/
Abstract

Given the shortcomings of current factor-, nonfactor-, and adeno-associated virus gene-based therapies, the recent advent of RNA-based therapeutics for hemophilia is changing the fundamental approach to hemophilia management. From small interfering RNA therapeutics that knockdown clot regulators antithrombin, protein S, and heparin cofactor II, to CRISPR/Cas9 gene editing that may personalize treatment, improved technologies have the potential to reduce bleeds and factor use and avoid inhibitor formation. These novel agents, some in preclinical studies and others in early phase trials, have the potential to simplify treatment and improve hemostasis and quality of life. Furthermore, because these therapies arise from manipulation of the coagulation cascade and thrombin generation and its regulation, they will enhance our understanding of hemostasis and thrombosis and ultimately lead to better therapies for children and adults with inherited bleeding disorders. What does the future hold? With the development of novel preclinical technologies at the bench, there will be fewer joint bleeds, debilitating joint disease, orthopedic surgery, and improved physical and mental health, which were not previously possible. In this review, we identify current limitations of treatment and progress in the development of novel RNA therapeutics, including messenger RNA nanoparticle delivery and gene editing for the treatment of hemophilia.

摘要

鉴于当前基于因子、非因子和腺相关病毒基因的治疗方法存在的缺陷,最近用于血友病的基于 RNA 的治疗方法的出现正在改变血友病管理的基本方法。从降低抗凝血酶、蛋白 S 和肝素辅因子 II 等凝血调节剂的小干扰 RNA 治疗药物,到可能实现个体化治疗的 CRISPR/Cas9 基因编辑,改进的技术有可能减少出血和因子使用,并避免抑制剂的形成。这些新型药物,有些处于临床前研究阶段,有些处于早期临床试验阶段,有可能简化治疗并改善止血和生活质量。此外,由于这些治疗方法源于对凝血级联和凝血酶生成及其调节的操纵,它们将增强我们对止血和血栓形成的理解,并最终为患有遗传性出血性疾病的儿童和成人提供更好的治疗方法。未来会怎样?随着实验室新的临床前技术的发展,将减少关节出血、使人衰弱的关节疾病、骨科手术以及改善身心健康,这些在以前是不可能的。在这篇综述中,我们确定了治疗的当前局限性以及新型 RNA 治疗方法的进展,包括信使 RNA 纳米颗粒递药和基因编辑治疗血友病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c85e/10862240/15607d5e62bc/BLOOD_BLD-2022-018661-C-ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c85e/10862240/15607d5e62bc/BLOOD_BLD-2022-018661-C-ga1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c85e/10862240/15607d5e62bc/BLOOD_BLD-2022-018661-C-ga1.jpg

相似文献

1
Innovations in RNA therapy for hemophilia.RNA 疗法治疗血友病的创新。
Blood. 2023 Nov 9;142(19):1613-1621. doi: 10.1182/blood.2022018661.
2
Thrombosis and novel hemophilia therapies: the fine line between clotting and bleeding.血栓形成和新型血友病治疗:凝血和出血之间的细微界限。
Blood Adv. 2021 Sep 28;5(18):3736. doi: 10.1182/bloodadvances.2021004802C.
3
Non-clotting factor therapies for preventing bleeds in people with congenital hemophilia A or B.用于预防先天性 A 型或 B 型血友病患者出血的非凝血因子治疗方法。
Cochrane Database Syst Rev. 2024 Feb 27;2(2):CD014544. doi: 10.1002/14651858.CD014544.pub2.
4
A Molecular Revolution in the Treatment of Hemophilia.血友病治疗的分子革命。
Mol Ther. 2020 Apr 8;28(4):997-1015. doi: 10.1016/j.ymthe.2019.11.006. Epub 2019 Nov 13.
5
The old and new: PCCs, VIIa, and long-lasting clotting factors for hemophilia and other bleeding disorders.新旧对比:凝血酶原复合物浓缩剂、凝血因子Ⅶa以及用于血友病和其他出血性疾病的长效凝血因子。
Hematology Am Soc Hematol Educ Program. 2013;2013:44-51. doi: 10.1182/asheducation-2013.1.44.
6
New therapies using nonfactor products for patients with hemophilia and inhibitors.新型疗法使用非因子产品治疗血友病合并抑制物患者。
Blood. 2019 Jan 31;133(5):399-406. doi: 10.1182/blood-2018-07-820712. Epub 2018 Dec 17.
7
Targeting of antithrombin in hemophilia A or B with investigational siRNA therapeutic fitusiran-Results of the phase 1 inhibitor cohort.靶向抗凝血酶治疗 A 型或 B 型血友病的研究性 siRNA 治疗药物 fitusiran-1 期抑制剂队列研究结果。
J Thromb Haemost. 2021 Jun;19(6):1436-1446. doi: 10.1111/jth.15270. Epub 2021 May 18.
8
Gene therapy for hemophilia: looking beyond factor expression.血友病的基因治疗:超越因子表达。
Exp Biol Med (Maywood). 2022 Dec;247(24):2223-2232. doi: 10.1177/15353702221147565. Epub 2023 Jan 23.
9
Novel therapeutics for hemophilia and other bleeding disorders.新型血友病及其他出血性疾病治疗药物。
Blood. 2018 Jul 5;132(1):23-30. doi: 10.1182/blood-2017-09-743385. Epub 2018 May 16.
10
2017 Clinical trials update: Innovations in hemophilia therapy.2017 年临床试验更新:血友病治疗的创新。
Am J Hematol. 2016 Dec;91(12):1252-1260. doi: 10.1002/ajh.24543. Epub 2016 Oct 3.

引用本文的文献

1
Transamniotic Delivery of Coagulation Factor VIII mRNA: A Step Toward a Potential Novel Strategy for the Perinatal Management of Hemophilia A.凝血因子VIII mRNA的经羊膜递送:迈向血友病A围产期管理潜在新策略的一步。
FASEB Bioadv. 2025 Sep 3;7(8):e70047. doi: 10.1096/fba.2025-00200. eCollection 2025 Aug.
2
JCMM Annual Review on Advances in Biotechnology for the Treatment of Haematological Malignancies: A Review of the Latest In-Patient Developments 2024-2025.《JCMM关于血液恶性肿瘤治疗生物技术进展的年度回顾:2024 - 2025年最新住院治疗进展回顾》
J Cell Mol Med. 2025 Jul;29(13):e70700. doi: 10.1111/jcmm.70700.
3

本文引用的文献

1
Efficacy and safety of fitusiran prophylaxis in people with haemophilia A or haemophilia B with inhibitors (ATLAS-INH): a multicentre, open-label, randomised phase 3 trial.fitusiran预防治疗甲型或乙型血友病伴抑制剂患者的疗效和安全性(ATLAS-INH):一项多中心、开放标签、随机3期试验。
Lancet. 2023 Apr 29;401(10386):1427-1437. doi: 10.1016/S0140-6736(23)00284-2. Epub 2023 Mar 29.
2
Fitusiran prophylaxis in people with severe haemophilia A or haemophilia B without inhibitors (ATLAS-A/B): a multicentre, open-label, randomised, phase 3 trial.Fitusiran 预防疗法在无抑制剂的重型 A 型或 B 型血友病患者中的应用(ATLAS-A/B):一项多中心、开放标签、随机、3 期临床试验。
Lancet Haematol. 2023 May;10(5):e322-e332. doi: 10.1016/S2352-3026(23)00037-6. Epub 2023 Mar 29.
3
RNAi targeting heparin cofactor II promotes hemostasis in a canine model of acquired hemophilia A.
靶向肝素辅因子II的RNA干扰在获得性血友病A犬模型中促进止血。
Gene Ther. 2025 May 24. doi: 10.1038/s41434-025-00541-w.
4
Green biosynthetic silver nanoparticles from as multifunctional hemostatic agents: Combining hemostasis, antibacterial, and anti-inflammatory properties for effective wound healing.来自[具体来源]的绿色生物合成银纳米颗粒作为多功能止血剂:兼具止血、抗菌和抗炎特性以实现有效的伤口愈合。
Mater Today Bio. 2025 Jan 10;31:101468. doi: 10.1016/j.mtbio.2025.101468. eCollection 2025 Apr.
5
The future of siRNA-mediated approaches to treat von Willebrand disease.用于治疗血管性血友病的小干扰RNA介导方法的未来。
Expert Rev Hematol. 2025 Feb;18(2):109-122. doi: 10.1080/17474086.2025.2459259. Epub 2025 Jan 29.
Correction of intron 1 inversion in hemophilia A patient-specific iPSCs by CRISPR/Cas9 mediated gene editing.通过CRISPR/Cas9介导的基因编辑校正A型血友病患者特异性诱导多能干细胞中的内含子1倒位。
Front Genet. 2023 Mar 9;14:1115831. doi: 10.3389/fgene.2023.1115831. eCollection 2023.
4
Gene Therapy with Etranacogene Dezaparvovec for Hemophilia B.用依特那考基因德扎帕罗韦克治疗B型血友病的基因疗法。
N Engl J Med. 2023 Feb 23;388(8):706-718. doi: 10.1056/NEJMoa2211644.
5
Two-Year Outcomes of Valoctocogene Roxaparvovec Therapy for Hemophilia A.A型血友病的valoctocogene roxaparvovec疗法的两年疗效
N Engl J Med. 2023 Feb 23;388(8):694-705. doi: 10.1056/NEJMoa2211075.
6
Efanesoctocog Alfa Prophylaxis for Patients with Severe Hemophilia A.依因子VIII预防严重A型血友病患者
N Engl J Med. 2023 Jan 26;388(4):310-318. doi: 10.1056/NEJMoa2209226.
7
Low-dose AAV-CRISPR-mediated liver-specific knock-in restored hemostasis in neonatal hemophilia B mice with subtle antibody response.低剂量 AAV-CRISPR 介导的肝特异性基因敲入可恢复具有轻微抗体反应的新生儿乙型血友病小鼠的止血功能。
Nat Commun. 2022 Nov 25;13(1):7275. doi: 10.1038/s41467-022-34898-y.
8
Prime editing for precise and highly versatile genome manipulation.碱基编辑技术实现精准且多功能的基因组编辑。
Nat Rev Genet. 2023 Mar;24(3):161-177. doi: 10.1038/s41576-022-00541-1. Epub 2022 Nov 7.
9
Genome editing-mediated knock-in of therapeutic genes ameliorates the disease phenotype in a model of hemophilia.在血友病模型中,基因组编辑介导的治疗性基因敲入改善了疾病表型。
Mol Ther Nucleic Acids. 2022 Aug 4;29:551-562. doi: 10.1016/j.omtn.2022.08.002. eCollection 2022 Sep 13.
10
Generation of an mESC model with a human hemophilia B nonsense mutation via CRISPR/Cas9 technology.通过 CRISPR/Cas9 技术生成携带人血友病 B 无义突变的 mESC 模型。
Stem Cell Res Ther. 2022 Jul 26;13(1):353. doi: 10.1186/s13287-022-03036-2.