voretigene neparvovec治疗。如何衡量成功?

IF 18.6 1区 医学 Q1 OPHTHALMOLOGY
Krunoslav Stingl , Melanie Kempf , Ronja Jung , Friederike Kortüm , Giulia Righetti , Milda Reith , Spyridon Dimopoulos , Saskia Ott , Susanne Kohl , Katarina Stingl
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引用次数: 7

摘要

视网膜基因补充疗法,如第一种获批的voretigene neparvovec,提供缺失基因的功能拷贝,使蛋白质能够在视网膜细胞中转录并恢复视觉功能。在对遗传缺陷进行基因补充后,会产生复杂的功能再生网络,而其程度是非常个体化的。到目前为止,眼科医生经常使用诊断和功能测试来确定正确的诊断,但不能应用于定义视觉功能微小、有时微妙变化的新环境中。需要对视网膜诊断有新的看法来理解这一定义治疗安全性和有效性的过程。视觉不仅有许多方面必须通过特定的评估和成像技术来解决,而且直到最近,对视杆和视锥的局部视网膜功能的客观读数一直是一个未满足的需求。在遗传性视网膜营养不良等罕见疾病中,可靠的重新测试变异性是必要的,因为由于参与者人数较少,统计数据往往不适用。需要对治疗成功进行可靠的个体评估的方法。在这篇手稿中,我们对视网膜诊断进行了详细的阐述,结合了心理物理学(例如,全场刺激阈值或暗适应视野测量)以及局部视网膜功能的客观测量(例如,明视和暗视彩色瞳孔测量)和视网膜成像,以实现一个有意义的工作流程,用于评估接受基因治疗的患者的个体成功率光感受器疾病。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Therapy with voretigene neparvovec. How to measure success?

Therapy with voretigene neparvovec. How to measure success?

Retinal gene supplementation therapy such as the first approved one, voretigene neparvovec, delivers a functioning copy of the missing gene enabling the protein transcription in retinal cells and restore visual functions. After gene supplementation for the genetic defect, a complex network of functional regeneration is the consequence, whereas the extent is very individualized. Diagnostic and functional testings that have been used routinely by ophthalmologists so far to define the correct diagnosis, cannot be applied in the new context of defining small, sometimes subtle changes in visual functions. New view on retinal diagnostics is needed to understand this processes that define safety and efficacy of the treatment. Not only does vision have many aspects that must be addressed by specific evaluations and imaging techniques, but objective readouts of local retinal function for rods and cones separately have been an unmet need until recently. A reliable test-retest variability is necessary in rare diseases such as inherited retinal dystrophies, because statistics are often not applicable due to a low number of participants. Methods for a reliable individual evaluation of the therapy success are needed. In this manuscript we present an elaboration on retinal diagnostics combining psychophysics (eg. full-field stimulus threshold or dark adapted perimetry) as well as objective measures for local retinal function (eg. photopic and scotopic chromatic pupil campimetry) and retinal imaging for a meaningful workflow to apply in evaluation of the individual success in patients receiving gene therapy for photoreceptor diseases.

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来源期刊
CiteScore
34.10
自引率
5.10%
发文量
78
期刊介绍: Progress in Retinal and Eye Research is a Reviews-only journal. By invitation, leading experts write on basic and clinical aspects of the eye in a style appealing to molecular biologists, neuroscientists and physiologists, as well as to vision researchers and ophthalmologists. The journal covers all aspects of eye research, including topics pertaining to the retina and pigment epithelial layer, cornea, tears, lacrimal glands, aqueous humour, iris, ciliary body, trabeculum, lens, vitreous humour and diseases such as dry-eye, inflammation, keratoconus, corneal dystrophy, glaucoma and cataract.
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