Department of Psychology, Babeș-Bolyai University, Cluj-Napoca, Romania.
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
J Clin Epidemiol. 2023 Sep;161:84-93. doi: 10.1016/j.jclinepi.2023.07.002. Epub 2023 Jul 7.
A rare disease is classified as such if it affects less than one person in 2,000. The Core Outcome Set STandards for Development (COS-STAD) is a set of standards that represent the minimum recommendations to be considered in the process of core outcome set (COS) development. The aim of this study was to provide a baseline assessment of COS development standards for rare genetic diseases.
Core Outcome Measures in Effectiveness Trials (COMET) database contains nearly 400 published COS studies according to the latest systematic review. Studies focusing on COS development for rare genetic diseases were eligible for inclusion and were assessed by two independent evaluators.
Nine COS studies were included in the analysis. Eight different rare genetic diseases were investigated. None of the studies met all the standards for development. The number of standards met ranged from 6 to 10, and the median was 7.
This study is the first study to assess COS-STAD for rare genetic diseases, and it highlights a great need for improvement. First in terms of numbers of rare diseases considered for COS developments, second in methodology, particularly regarding the consensus process, and third in reporting of the COS development studies.
罕见病是指每 2000 人中只有 1 人受到影响的疾病。核心结局测量标准化倡议（COS-STAD）是一套标准，代表了在核心结局集（COS）开发过程中需要考虑的最低建议。本研究的目的是为罕见遗传疾病的 COS 开发标准提供基线评估。
根据最新的系统评价，核心结局测量在有效性试验（COMET）数据库中包含近 400 项已发表的 COS 研究。符合纳入标准的研究为罕见遗传疾病的 COS 开发而进行，由两名独立评估者进行评估。
共有 9 项 COS 研究纳入分析。研究调查了 8 种不同的罕见遗传疾病。没有一项研究符合所有的开发标准。符合标准的数量从 6 到 10 不等，中位数为 7。
这是第一项评估罕见遗传疾病 COS-STAD 的研究，它突出了需要改进的地方。首先是考虑的罕见疾病数量，其次是方法学，特别是关于共识过程，最后是 COS 开发研究的报告。
