Acaster Lloyd Consulting, London, UK
Acaster Lloyd Consulting, London, UK.
Br J Ophthalmol. 2019 Nov;103(11):1610-1614. doi: 10.1136/bjophthalmol-2018-313089. Epub 2019 Jan 18.
BACKGROUND/AIMS: In rare diseases, health-related quality of life (HRQL) data can be difficult to capture. Given the ultrarare nature of -mediated inherited retinal disease (IRD), it was not feasible to recruit a patient sample and collect HRQL data prospectively. The objectives of this study were to develop health state descriptions of -mediated IRD, and to estimate associated patient utilities.
Vignette descriptions of IRD states were developed and then assessed to elicit utilities. The vignettes ranged from moderate vision loss through to hand motion to no light perception (NLP). Six retina specialists with additional expertise in IRDs provided a proxy valuation of the vignettes using generic measures of health-the 5-level version of EQ-5D-5L and Health Utility Index 3 (HUI3). The data were then scored using standard methods for each instrument.
Weights from both HRQL measures revealed a large decline in scores with vision loss. The EQ-5D-5L weights ranged from 0.709 for moderate vision loss to 0.152 for hand motion to NLP. The HUI3 weights ranged from 0.519 to - 0.039, respectively. A decline was seen on both measures, and the degree of decline from moderate vision loss to NLP was identical on both (-0.56).
This is the first study to report HRQL weights (or utilities) for health states describing different levels of vision loss in patients with IRD, specifically those with -mediated disease. The parallel decline in scores from the EQ-5D and HUI3 corroborates the substantial impact of progressive vision loss on HRQL.
背景/目的：在罕见病中，健康相关生活质量（HRQL）数据可能难以获取。鉴于 - 介导的遗传性视网膜疾病（IRD）的超罕见性质，招募患者样本并前瞻性地收集 HRQL 数据是不可行的。本研究的目的是制定 - 介导的 IRD 的健康状况描述，并估计相关的患者效用。
开发了 IRD 状态的情景描述，然后对其进行评估以引出效用。这些情景从中度视力丧失到手动视力到无光感（NLP）不等。六名具有 IRD 额外专业知识的视网膜专家使用通用健康衡量标准 - EQ-5D-5L 的 5 级版本和健康效用指数 3（HUI3）对情景进行了代理评估。然后使用每种仪器的标准方法对数据进行评分。
两种 HRQL 衡量标准的权重都显示出随着视力丧失而导致的分数大幅下降。EQ-5D-5L 的权重从中度视力丧失的 0.709 到手动视力的 0.152 到 NLP 的 0.152。HUI3 的权重分别为 0.519 至 -0.039。两种衡量标准都出现了下降，从中度视力丧失到 NLP 的下降程度在两种衡量标准上完全相同（-0.56）。
这是第一项报告描述 IRD 患者不同程度视力丧失的健康状况的 HRQL 权重（或效用）的研究，特别是那些与 - 介导疾病相关的患者。EQ-5D 和 HUI3 的评分平行下降证实了进行性视力丧失对 HRQL 的重大影响。
