{"title":"低视力环境下可视化治疗效果:遗传性视网膜疾病治疗临床试验的已证实和潜在终点","authors":"Arun J Thirunavukarasu, Shabnam Raji, Jasmina Cehajic Kapetanovic","doi":"10.1038/s41434-025-00552-7","DOIUrl":null,"url":null,"abstract":"<p><p>Inherited retinal diseases are a devasting and incurable cause of blindness which frequently affect patients at a young age, and developing effective treatments has been an important research priority in recent decades. Treatments must be validated in randomised-control trials, which involve measuring benefit according to prospectively defined endpoints. A wide variety of conventional clinical endpoints and emerging anatomical, physiological, and functional biomarkers may be selected. Different options may be better or worse at capturing clinically significant differences and identifying real differences between experimental groups. This review provides an overview of some proven and potential endpoints for randomised-control trials involving inherited retinal disease patients. Clinical endpoints and biomarkers are discussed, and the work required to validate biomarkers for use in trials is outlined. Unlike in general medicine, ophthalmological clinical endpoints may all be conceptualised as surrogates for maintained vision. Selecting optimal endpoints is essential to ensure that treatments are assessed fairly, such that resources are directed towards interventions that stand to truly benefit patients with inherited retinal diseases.</p>","PeriodicalId":12699,"journal":{"name":"Gene Therapy","volume":" ","pages":""},"PeriodicalIF":4.5000,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies.\",\"authors\":\"Arun J Thirunavukarasu, Shabnam Raji, Jasmina Cehajic Kapetanovic\",\"doi\":\"10.1038/s41434-025-00552-7\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Inherited retinal diseases are a devasting and incurable cause of blindness which frequently affect patients at a young age, and developing effective treatments has been an important research priority in recent decades. Treatments must be validated in randomised-control trials, which involve measuring benefit according to prospectively defined endpoints. A wide variety of conventional clinical endpoints and emerging anatomical, physiological, and functional biomarkers may be selected. Different options may be better or worse at capturing clinically significant differences and identifying real differences between experimental groups. This review provides an overview of some proven and potential endpoints for randomised-control trials involving inherited retinal disease patients. Clinical endpoints and biomarkers are discussed, and the work required to validate biomarkers for use in trials is outlined. Unlike in general medicine, ophthalmological clinical endpoints may all be conceptualised as surrogates for maintained vision. Selecting optimal endpoints is essential to ensure that treatments are assessed fairly, such that resources are directed towards interventions that stand to truly benefit patients with inherited retinal diseases.</p>\",\"PeriodicalId\":12699,\"journal\":{\"name\":\"Gene Therapy\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.5000,\"publicationDate\":\"2025-08-07\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Therapy\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1038/s41434-025-00552-7\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Therapy","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1038/s41434-025-00552-7","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Visualising treatment effects in low-vision settings: proven and potential endpoints for clinical trials of inherited retinal disease therapies.
Inherited retinal diseases are a devasting and incurable cause of blindness which frequently affect patients at a young age, and developing effective treatments has been an important research priority in recent decades. Treatments must be validated in randomised-control trials, which involve measuring benefit according to prospectively defined endpoints. A wide variety of conventional clinical endpoints and emerging anatomical, physiological, and functional biomarkers may be selected. Different options may be better or worse at capturing clinically significant differences and identifying real differences between experimental groups. This review provides an overview of some proven and potential endpoints for randomised-control trials involving inherited retinal disease patients. Clinical endpoints and biomarkers are discussed, and the work required to validate biomarkers for use in trials is outlined. Unlike in general medicine, ophthalmological clinical endpoints may all be conceptualised as surrogates for maintained vision. Selecting optimal endpoints is essential to ensure that treatments are assessed fairly, such that resources are directed towards interventions that stand to truly benefit patients with inherited retinal diseases.
期刊介绍:
Gene Therapy covers both the research and clinical applications of novel therapeutic techniques based on a genetic component. Over the last few decades, significant advances in technologies ranging from identifying novel genetic targets that cause disease through to clinical studies, which show therapeutic benefit, have elevated this multidisciplinary field to the forefront of modern medicine.