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遗传性视网膜疾病:治疗方法、临床试验和终点——综述。

Inherited retinal diseases: Therapeutics, clinical trials and end points-A review.

机构信息

UCL Institute of Ophthalmology, University College London, London, UK.

Moorfields Eye Hospital NHS Foundation Trust, London, UK.

出版信息

Clin Exp Ophthalmol. 2021 Apr;49(3):270-288. doi: 10.1111/ceo.13917. Epub 2021 Mar 20.

Abstract

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders characterised by photoreceptor degeneration or dysfunction. These disorders typically present with severe vision loss that can be progressive, with disease onset ranging from congenital to late adulthood. The advances in genetics, retinal imaging and molecular biology, have conspired to create the ideal environment for establishing treatments for IRDs, with the first approved gene therapy and the commencement of multiple clinical trials. The scope of this review is to familiarise clinicians and scientists with the current management and the prospects for novel therapies for: (1) macular dystrophies, (2) cone and cone-rod dystrophies, (3) cone dysfunction syndromes, (4) Leber congenital amaurosis, (5) rod-cone dystrophies, (6) rod dysfunction syndromes and (7) chorioretinal dystrophies. We also briefly summarise the investigated end points for the ongoing trials.

摘要

遗传性视网膜疾病(IRDs)是一组临床和遗传上具有异质性的疾病,其特征为光感受器变性或功能障碍。这些疾病通常表现为严重的视力丧失,且具有进行性,发病时间从先天性到成年后期不等。遗传学、视网膜成像和分子生物学的进步为建立 IRD 治疗方法创造了理想的环境,首个批准的基因治疗方法和多项临床试验已经开始。本综述的目的是使临床医生和科学家熟悉目前对以下疾病的治疗方法和新疗法的前景:(1)黄斑营养不良,(2)视锥细胞和视锥-视杆营养不良,(3)视锥细胞功能障碍综合征,(4)Leber 先天性黑矇,(5)视杆-视锥营养不良,(6)视杆细胞功能障碍综合征和(7)脉络膜视网膜营养不良。我们还简要总结了正在进行的试验的研究终点。

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