针对 RPGR 相关 X 连锁色素性视网膜炎的新兴基因治疗产品。

IF 2.7 3区 医学 Q2 PHARMACOLOGY & PHARMACY
Cristina Martinez-Fernandez de la Camara, Jasmina Cehajic-Kapetanovic, Robert E MacLaren
{"title":"针对 RPGR 相关 X 连锁色素性视网膜炎的新兴基因治疗产品。","authors":"Cristina Martinez-Fernandez de la Camara, Jasmina Cehajic-Kapetanovic, Robert E MacLaren","doi":"10.1080/14728214.2022.2152003","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Mutations in the <i>RPGR</i> gene are responsible for one of the most prevalent and severe types of retinitis pigmentosa. Gene therapy has shown great promise to treat inherited retinal diseases, and currently, four RPGR gene therapy vectors are being evaluated in clinical trials.</p><p><strong>Areas covered: </strong>This manuscript reviews the gene therapy products that are in development for X-linked retinitis pigmentosa caused by mutations in <i>RPGR</i>, and the challenges that scientists and clinicians have faced.</p><p><strong>Expert opinion: </strong>The development of a gene therapy product for <i>RPGR</i>-associated retinal degeneration has been a great challenge due to the incomplete understanding of the underlying genetics and mechanism of action of RPGR, and on the other hand, due to the instability of the <i>RPGR</i> gene. Three of the four gene therapy vectors currently in clinical trials include a codon-optimized version of the human <i>RPGR</i> sequence, and the other vector contains a shortened version of the human <i>RPGR</i>. To date, the only Phase I/II results published in a peer-reviewed journal demonstrate a good safety profile and an improvement in the visual field using a codon optimized version of <i>RPGR</i><sup><i>ORF15</i></sup>.</p>","PeriodicalId":12292,"journal":{"name":"Expert Opinion on Emerging Drugs","volume":"27 4","pages":"431-443"},"PeriodicalIF":2.7000,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa.\",\"authors\":\"Cristina Martinez-Fernandez de la Camara, Jasmina Cehajic-Kapetanovic, Robert E MacLaren\",\"doi\":\"10.1080/14728214.2022.2152003\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Mutations in the <i>RPGR</i> gene are responsible for one of the most prevalent and severe types of retinitis pigmentosa. Gene therapy has shown great promise to treat inherited retinal diseases, and currently, four RPGR gene therapy vectors are being evaluated in clinical trials.</p><p><strong>Areas covered: </strong>This manuscript reviews the gene therapy products that are in development for X-linked retinitis pigmentosa caused by mutations in <i>RPGR</i>, and the challenges that scientists and clinicians have faced.</p><p><strong>Expert opinion: </strong>The development of a gene therapy product for <i>RPGR</i>-associated retinal degeneration has been a great challenge due to the incomplete understanding of the underlying genetics and mechanism of action of RPGR, and on the other hand, due to the instability of the <i>RPGR</i> gene. Three of the four gene therapy vectors currently in clinical trials include a codon-optimized version of the human <i>RPGR</i> sequence, and the other vector contains a shortened version of the human <i>RPGR</i>. To date, the only Phase I/II results published in a peer-reviewed journal demonstrate a good safety profile and an improvement in the visual field using a codon optimized version of <i>RPGR</i><sup><i>ORF15</i></sup>.</p>\",\"PeriodicalId\":12292,\"journal\":{\"name\":\"Expert Opinion on Emerging Drugs\",\"volume\":\"27 4\",\"pages\":\"431-443\"},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2022-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Expert Opinion on Emerging Drugs\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/14728214.2022.2152003\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PHARMACOLOGY & PHARMACY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Expert Opinion on Emerging Drugs","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/14728214.2022.2152003","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PHARMACOLOGY & PHARMACY","Score":null,"Total":0}
引用次数: 0

摘要

简介RPGR 基因突变是最常见、最严重的视网膜色素变性症之一。基因疗法在治疗遗传性视网膜疾病方面前景广阔,目前有四种 RPGR 基因治疗载体正在接受临床试验评估:本手稿回顾了针对由 RPGR 基因突变引起的 X 连锁视网膜色素变性症正在开发的基因治疗产品,以及科学家和临床医生所面临的挑战:RPGR相关视网膜变性的基因治疗产品的开发一直是一个巨大的挑战,一方面是由于对RPGR的基本遗传学和作用机制的不完全了解,另一方面是由于RPGR基因的不稳定性。目前正在进行临床试验的四种基因治疗载体中,有三种包含人类 RPGR 序列的密码子优化版本,另一种载体包含人类 RPGR 的缩短版本。迄今为止,唯一发表在同行评审期刊上的 I/II 期研究结果表明,使用 RPGRORF15 的密码子优化版本具有良好的安全性,视野也有所改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa.

Introduction: Mutations in the RPGR gene are responsible for one of the most prevalent and severe types of retinitis pigmentosa. Gene therapy has shown great promise to treat inherited retinal diseases, and currently, four RPGR gene therapy vectors are being evaluated in clinical trials.

Areas covered: This manuscript reviews the gene therapy products that are in development for X-linked retinitis pigmentosa caused by mutations in RPGR, and the challenges that scientists and clinicians have faced.

Expert opinion: The development of a gene therapy product for RPGR-associated retinal degeneration has been a great challenge due to the incomplete understanding of the underlying genetics and mechanism of action of RPGR, and on the other hand, due to the instability of the RPGR gene. Three of the four gene therapy vectors currently in clinical trials include a codon-optimized version of the human RPGR sequence, and the other vector contains a shortened version of the human RPGR. To date, the only Phase I/II results published in a peer-reviewed journal demonstrate a good safety profile and an improvement in the visual field using a codon optimized version of RPGRORF15.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
5.90
自引率
0.00%
发文量
28
审稿时长
>12 weeks
期刊介绍: Expert Opinion on Emerging Drugs (ISSN 1472-8214 [print], 1744-7623 [electronic]) is a MEDLINE-indexed, peer-reviewed, international journal publishing structured reviews on Phase II and Phase III drugs/drug classes emerging onto the market across all therapy areas, providing expert opinion on their potential impact on the current management of specific diseases.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信