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视网膜基因疗法在患有胆 ?? 血症的患者:从一个阶段1/2临床试验的初步发现

Robert E MacLaren¹, Markus Groppe¹, Alun R Barnard²

¹Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Eye Hospital, Oxford University Hospitals NHS Trust and NIHR Biomedical Research Centre, Oxford, UK; Moorfields Eye Hospital NHS Foundation Trust and NIHR Ophthalmology Biomedical Research Centre, London, UK.

Lancet (London, England)

|January 21, 2014

概括

使用AAV.REP1进行视网膜基因疗法,改善了胆红患者的视力和视网膜敏感性. 这种治疗对遗传性视网膜疾病有希望,即使在晚期病例中也是如此.

科学领域:

眼科医生眼科眼科
遗传学是一个遗传学.
分子生物学分子生物学

背景情况:

胆固醇血症是一种X相关的衰退性疾病,由于影响Rab护送蛋白1 (REP1) 的CHM基因突变导致失明.
基因疗法旨在使用腺相关病毒 (AAV) 载体恢复REP1功能.

研究的目的:

评估视网膜基因疗法与AV.REP1在胆固醇病患者的安全性和有效性.
评估对视觉功能和视网膜敏感性的影响.

主要方法:

一项多中心临床试验,涉及6名患有胆固醇血症的男性患者 (35-63岁).
用AAV.REP1载体 (0.61.0×10^10个基因组颗粒) 进行下注射.
视觉功能测试 (视觉敏度,微观测量) 与基线和手术后6个月相比.

主要成果:

两个患有晚期疾病和低基线视力敏度的患者获得了显著的视力 (21和11个字母).
四名患有接近正常的基线敏度的患者改善了1-3个字母;整体平均增益为3.8个字母.
在接受治疗的眼睛中,视网膜最大灵敏度增加了2.3dB,与载体剂量相关.
对照眼睛显示灵敏度没有显著降低.

结论:

使用AAV.REP1进行视网膜基因疗法,显示出在胆红病中改善视力和视网膜功能的潜力.
治疗可以克服视网膜脱落的负面影响.
需要进一步调查胆红素和其他视网膜疾病,如与年龄相关的黄斑变性,理想情况下在视网膜显著变薄之前.

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Gene Therapy

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...