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Choosing Outcome Measures and Assessing Efficacy of Therapeutic Interventions in Inherited Retinal Diseases: The Importance of Natural History Studies.选择结局指标并评估遗传性视网膜疾病治疗干预的疗效：自然史研究的重要性
Int Ophthalmol Clin. 2021 Oct 1;61(4):47-61. doi: 10.1097/IIO.0000000000000380.
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Early and late stage gene therapy interventions for inherited retinal degenerations.遗传性视网膜退行性疾病的早期和晚期基因治疗干预。
Prog Retin Eye Res. 2022 Jan;86:100975. doi: 10.1016/j.preteyeres.2021.100975. Epub 2021 May 29.
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Gene Therapy.基因治疗
N Engl J Med. 2019 Aug 1;381(5):455-464. doi: 10.1056/NEJMra1706910.
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Detailed clinical characterisation, unique features and natural history of autosomal recessive -associated retinal degeneration.常染色体隐性遗传相关性视网膜变性的详细临床特征、独特表现和自然病史。
Br J Ophthalmol. 2019 Dec;103(12):1789-1796. doi: 10.1136/bjophthalmol-2018-313580. Epub 2019 Apr 12.
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The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.RPE65 基因双等位基因突变所致遗传性视网膜营养不良的自然病史。
Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28.
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Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65-mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial.治疗 RPE65 介导的遗传性视网膜营养不良患者的 voretigene neparvovec（AAV2-hRPE65v2）的疗效和安全性：一项随机、对照、开放标签、3 期临床试验。
Lancet. 2017 Aug 26;390(10097):849-860. doi: 10.1016/S0140-6736(17)31868-8. Epub 2017 Jul 14.

Conducting gene therapy clinical trials based on natural history studies for inherited retinal diseases in Chinese population.

作者信息

Liu Wenjia, Chen Jieqiong, Li Tong, Sun Xiaodong

机构信息

Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

National Clinical Research Center for Ophthalmic Diseases, Shanghai, China.

出版信息

Adv Ophthalmol Pract Res. 2022 Oct 15;3(1):6-8. doi: 10.1016/j.aopr.2022.10.001. eCollection 2023 Feb-Mar.

DOI:10.1016/j.aopr.2022.10.001
PMID:37846429
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10577821/
Abstract
摘要