Development of Methodology and Study Protocol: Safety and Efficacy of a Single Subretinal Injection of rAAV.hCNGA3 in Patients with CNGA3-Linked Achromatopsia Investigated in an Exploratory Dose-Escalation Trial.

Q1 Medicine

Human Gene Therapy Clinical Development Pub Date : 2018-09-01 DOI:10.1089/humc.2018.088

Nadine A Kahle, Tobias Peters, Ditta Zobor, Laura Kuehlewein, Susanne Kohl, Ahmad Zhour, Annette Werner, Immanuel P Seitz, Vithiyanjali Sothilingam, Stylianos Michalakis, Martin Biel, Marius Ueffing, Eberhart Zrenner, Karl U Bartz-Schmidt, M Dominik Fischer, Barbara J C Wilhelm

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引用次数: 22

Abstract

Achromatopsia is an autosomal recessively inherited congenital defect characterized by a lack of cone photoreceptor function, leading to severely impaired vision. In this clinical study, achromatopsia patients were treated with a single subretinal injection of rAAV.hCNGA3 to restore cone function. The focus of this trial was on the safety of the treatment. After surgery, patients were monitored in eight extensive visits during the first year, followed by a 4-year follow-up period with annual visits. For essential complementation of the standard ophthalmological and systemic examinations, disease-specific methods were developed to assess the safety, efficacy, and patient-reported outcomes in this trial.

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方法和研究方案的发展:视网膜下单次注射rAAV的安全性和有效性。一项探索性剂量递增试验研究了hCNGA3在cnga3相关性色盲患者中的作用

色盲是一种常染色体隐性遗传的先天性缺陷，其特征是锥体光感受器功能缺乏，导致视力严重受损。在本临床研究中，色盲患者接受单次视网膜下注射rAAV治疗。hCNGA3恢复锥体功能。这项试验的重点是治疗的安全性。手术后，患者在第一年接受了8次广泛的随访，随后是4年的随访期，每年一次。作为标准眼科和系统检查的必要补充，我们开发了针对疾病的方法来评估该试验的安全性、有效性和患者报告的结果。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Gene Therapy Clinical Development CRITICAL CARE MEDICINEMEDICINE, RESEARCH &-MEDICINE, RESEARCH & EXPERIMENTAL

CiteScore

7.20

自引率

0.00%

发文量

期刊介绍： Human Gene Therapy (HGT) is the premier, multidisciplinary journal covering all aspects of gene therapy. The Journal publishes important advances in DNA, RNA, cell and immune therapies, validating the latest advances in research and new technologies.