The Swedish Institute for Health Economics, IHE, Lund, Sweden.
Immedica Pharma AB, Stockholm, Sweden.
J Med Econ. 2024 Jan-Dec;27(1):1146-1156. doi: 10.1080/13696998.2024.2400856. Epub 2024 Sep 7.
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.
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.
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).
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.
精氨酸酶 1 缺乏症（ARG1-D）是一种极为罕见的疾病，其临床表现为运动和认知障碍，且随时间推移逐渐加重，甚至可能导致早期死亡。ARG1-D 等疾病对医疗保健领域以外的影响也很大，本研究旨在从社会角度评估与 ARG1-D 相关的疾病负担。
本研究采用基于网络的问卷调查方式，对来自法国、葡萄牙、西班牙和英国的 4 个欧洲国家的 ARG1-D 患者及其照护者进行调查。调查在参与诊所发放，内容包括症状（包括粗大运动功能分级系统[GMFCS]和认知障碍）、医疗保健利用、药物治疗、工作能力、照护情况以及健康相关生活质量（HRQoL）的影响（使用 EQ-5D-5L 进行评估）。
估计每位患者每年的总社会平均成本为 63775 英镑（标准差：49944 英镑）。成本随运动障碍的严重程度而显著变化（从 GMFCS 1 级的 49809 英镑到 GMFCS 3-5 级的 103639 英镑），也随认知障碍的严重程度而显著变化（从轻度的 43860 英镑到重度的 99162 英镑）。患者 EQ-5D-5L 效用评分的平均值为 0.498（标准差：0.352）。该评分也随运动障碍的严重程度而显著变化（从 GMFCS 1 级的 0.783 到 GMFCS 3-5 级的 0.153），也随认知障碍的严重程度而显著变化（从轻度的 0.738 到重度的 0.364）。
与其他罕见病研究一样，本研究基于有限的观察结果。然而，与之前的 ARG1-D 研究相比，该样本似乎具有相当的代表性。本研究表明，ARG1-D 会导致高昂的社会成本和 HRQoL 的显著下降。因此，早期诊断和更好的治疗方案，以延缓或阻止疾病进展，可能会改善患者、照护者和社会的 HRQoL，并节省成本。
