欧洲与精氨酸酶 1 缺乏症相关的社会成本和生活质量--一项跨国横断面调查。

IF 2.9 4区 医学 Q2 HEALTH CARE SCIENCES & SERVICES
Journal of Medical Economics Pub Date : 2024-01-01 Epub Date: 2024-09-07 DOI:10.1080/13696998.2024.2400856
Sara Olofsson, Sofia Löfvendahl, Julia Widén, Mattias Rudebeck, Peter Lindgren, Karolina M Stepien, Jean-Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Lena Jacobson
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引用次数: 0

摘要

背景和目的:精氨酸酶 1 缺乏症(ARG1-D)是一种超级罕见病,表现为行动和认知障碍,并随着时间的推移而发展,可能导致早期死亡。ARG1-D等疾病在医疗保健领域之外也有重大影响,本研究旨在从社会角度估算目前与ARG1-D相关的疾病负担:研究以网络调查的形式进行,调查对象为欧洲四国(法国、葡萄牙、西班牙、英国)的 ARG1-D 患者及其护理人员。调查表在参与调查的诊所发放,内容包括症状(包括粗大运动功能分类系统(GMFCS)和认知障碍)、医疗保健使用、用药、工作能力、护理以及使用 EQ-5D-5L 对健康相关生活质量(HRQoL)的影响等问题:每位患者每年的平均社会总成本估计为 63,775 英镑(标准差:49,944 英镑)。成本因行动障碍(GMFCS 1 级为 49,809 英镑,GMFCS 3-5 级为 103,639 英镑)和认知障碍(轻度为 43,860 英镑,重度为 99,162 英镑)而有显著差异。患者的 EQ-5D-5L 实用性平均得分为 0.498(标度:0.352)。效用得分也因行动障碍(从 GMFCS 1 级的 0.783 到 GMFCS 3-5 级的 0.153)和认知障碍(从轻度的 0.738 到重度的 0.364)而有显著差异:与其他罕见病研究类似,本研究也是基于有限的观察结果。结论:与其他罕见病研究相似,该研究也是基于数量有限的观察结果,但与以往的 ARG1-D 研究相比,样本似乎具有合理的代表性。这项研究表明,ARG1-D 与高昂的社会成本和对 HRQoL 的重大影响有关。因此,更早的诊断和更好的治疗方案(可推迟或阻止病情恶化)有可能改善患者的 HRQoL,并为患者、护理人员和社会节省开支。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey.

Background and aims: Arginase 1 deficiency (ARG1-D) is a ultrarare disease with manifestations that cause mobility and cognitive impairment that progress over time and may lead to early mortality. Diseases such as ARG1-D have a major impact also outside of the health care sector and the aim of this study was to estimate the current burden of disease associated with ARG1-D from a societal perspective.

Methods: The study was performed as a web-based survey of patients with ARG1-D and their caregivers in four European countries (France, Portugal, Spain, United Kingdom). The survey was distributed at participating clinics and included questions on e.g. symptoms (including the Gross Motor Function Classification System, GMFCS, and cognitive impairment), health care use, medication, ability to work, caregiving, and impact on health-related quality-of-life (HRQoL) using the EQ-5D-5L.

Results: The estimated total mean societal cost per patient and year was £63,775 (SD: £49,944). The cost varied significantly with both mobility impairment (from £49,809 for GMFCS level 1 to £103,639 for GMFCS levels 3-5) and cognitive impairment (from £43,860 for mild level to £99,162 for severe level). The mean utility score on the EQ-5D-5L for patients was 0.498 (SD: 0.352). The utility score also varied significantly with both mobility impairment (from 0.783 for GMFCS level 1 to 0.153 for GMFCS level 3-5) and cognitive impairment (from 0.738 for mild level to 0.364 for severe level).

Conclusions: Similar to other studies of rare diseases, the study is based on a limited number of observations. However, the sample appear to be reasonably representative when comparing to previous studies of ARG1-D. This study shows that ARG1-D is associated with a high societal cost and significant impact on HRQoL. Earlier diagnosis and better treatment options that can postpone or withhold progression may therefore have a potential for improved HRQoL and savings for the patient, caregiver, and society.

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来源期刊
Journal of Medical Economics
Journal of Medical Economics HEALTH CARE SCIENCES & SERVICES-MEDICINE, GENERAL & INTERNAL
CiteScore
4.50
自引率
4.20%
发文量
122
期刊介绍: Journal of Medical Economics'' mission is to provide ethical, unbiased and rapid publication of quality content that is validated by rigorous peer review. The aim of Journal of Medical Economics is to serve the information needs of the pharmacoeconomics and healthcare research community, to help translate research advances into patient care and be a leader in transparency/disclosure by facilitating a collaborative and honest approach to publication. Journal of Medical Economics publishes high-quality economic assessments of novel therapeutic and device interventions for an international audience
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