中国遗传性视网膜疾病临床试验视觉功能评估及终点指标推荐专家共识

Expert consensus and recommendations on the evaluation of visual function and outcome measurements in clinical trials for inherited retinal diseases in China

近年来以基因治疗为代表的新兴精准医学技术的高速发展,为遗传性视网膜疾病(IRD)等过去尚无有效治疗方法的罕见致盲性眼病带来了治疗的希望。虽然过去十年内IRD相关药物临床试验在全球范围内加速发展,但由于IRD存在基因及临床表型高度异质性,同时流行病学及疾病自然病程等研究有限,多数患者就诊时视觉功能损伤严重,传统视觉功能评价指标难以在上述研究中应用,导致此类临床试验缺乏公认的视觉功能评估及研究终点指标及评价方法,这对研究设计、有效性评价和临床实践应用等方面提出了重大挑战。目前针对IRD药物临床试验安全性及视觉功能等疗效终点指标及评价方法尚未形成系统的规范化指导意见。因此,为了规范和统一IRD临床试验有效性评价及终点指标选择,中华医学会眼科学分会眼底病学组以及中国医师协会眼科医师分会眼底病专业委员会组织国内相关专家,经过反复讨论,提出了我国IRD药物临床试验疗效终点及评价指标的共识性推荐意见,供临床医师在临床研究和实践中参考应用,旨在促进我国IRD临床试验及自然病程研究设计水平的提高和有效地评估疾病进展及干预疗效。相信随着医学科学和临床试验发展,相关内容将不断完善与更新。

Rapid development of recently emerging precision medicine techniques represented by gene therapy has brought hope for the treatment of rare blinding eye diseases such as inherited retinal diseases(IRDs)for which there was no effective treatment previously.Although the globally growth of clinical trials for IRDs has increased rapidly over the past decade,due to the highly genetic and clinical phenotypic heterogeneity,as well as limited data on epidemiology and natural history of the disease,along with severe loss of vision function of majority patients for which the established measurements may not be appropriate,such studies lack standard outcome measurements and endpoints to asses clinical meaningful effectiveness,posing great challenges in terms of study design and evaluation of treatment efficacy,as well as clinical practice application.At present,there is no systematic nor standardized guidance on safety measures,clinical outcomes and endpoints of visual function for clinical trial design in IRDs.Therefore,in order to standardize the validated evaluation of IRDs clinical efficacy outcome measurements and endpoints,the Fundus Disease Group of Chinese Medical Association Ophthalmology Branch and Fundus Disease Committee of Chinese Medical Doctor Association Ophthalmology Branch organized domestic experts to put forward consensus and recommendations on standardizing outcome measurements and endpoints for clinical study design in IRDs,aiming to advance the study design of IRDs natural history research and clinical trials and to effectively evaluate disease progression and intervention efficacy.Along with the development of medical science and clinical trials,relevant content will be improved and updated accordingly.