■精氨酸酶1缺乏症(ARG1-D)是一种超常疾病,其表现会导致移动性和认知障碍,并随着时间的推移而发展,并可能导致早期死亡。ARG1-D等疾病在医疗保健部门之外也具有重大影响,本研究的目的是从社会角度估计与ARG1-D相关的当前疾病负担。
■该研究是基于网络对四个欧洲国家的ARG1-D患者及其护理人员进行的调查(法国,葡萄牙,西班牙,联合王国)。调查在参与的诊所分发,并包括以下问题: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,药物,工作能力,照顾,以及使用EQ-5D-5L对健康相关生活质量(HRQoL)的影响。
■估计每位患者和每一年的平均社会成本为63,775英镑(SD:49,944英镑)。移动障碍(从GMFCS1级的49,809英镑到GMFCS3-5级的103,639英镑)和认知障碍(从轻度水平的43,860英镑到重度水平的99,162英镑)的费用差异很大。患者在EQ-5D-5L上的平均效用评分为0.498(SD:0.352)。实用性得分也随移动性障碍(从GMFCS1级的0.783到GMFCS3-5级的0.153)和认知障碍(从轻度水平的0.738到重度水平的0.364)而显着变化。
■类似于其他罕见疾病的研究,这项研究是基于有限数量的观察。然而,与以前的ARG1-D研究相比,该样本似乎具有合理的代表性。这项研究表明,ARG1-D与较高的社会成本和对HRQoL的重大影响有关。因此,早期诊断和更好的治疗选择可以推迟或阻止进展,可能有改善HRQoL并为患者节省费用的潜力。看护人,和社会。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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).
UNASSIGNED: 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.