Weber Michel, Parmeggiani Francesco, Bremond-Gignac Dominique, Daly Avril, Lahaye Marjolein, Lotery Andrew, Paudel Nabin, Ritter Markus, de la Rúa Enrique Rodríguez, Rotenstreich Ygal, Sankila Eeva-Marja, Stingl Katarina, Van Denderen Jacqueline, Denee Tom, Pungor Katalin
Ophthalmology Department, University Hospital Centre (CHU) de Nantes, Nantes, France.
INSERM UMR 1089, University of Nantes, CHU de Nantes, Nantes, France.
Adv Ther. 2025 Jun;42(6):2922-2936. doi: 10.1007/s12325-025-03196-6. Epub 2025 Apr 29.
Informal caregivers play an important part in the healthcare of patients with chronic diseases, including those leading to visual impairment. X-linked retinitis pigmentosa (XLRP) is considered one of the most severe forms of retinitis pigmentosa and causes declines in vision starting in childhood, ultimately progressing to legal blindness in adulthood. Caregivers are expected to play an increasing role in patient care, but real-world impacts of XLRP on caregivers are poorly evaluated.
EXPLORE XLRP-2 was an exploratory, multicentre, non-interventional study. Cross-sectional surveys were used to gather experiences directly from caregivers across Europe and Israel by both validated and newly developed caregiver-reported outcome surveys.
Seventy caregivers of patients with XLRP associated with retinitis pigmentosa GTPase regulator (RPGR) mutations were enrolled, of whom 68 were included in analyses; 87.7% of caregivers were female and mean (standard deviation [SD]) age was 49.4 (11.7) years. They were most commonly either spouses (50.8%) or parents (41.5%) of patients. Caregivers spent a mean (SD) 28.7 (34.5) hours per week caring for patients. Of the 72.3% of caregivers who were employed, 34.8% worked part time; of the 27.7% of caregivers who were unemployed, 33.3% cited caregiving responsibilities as a cause for unemployment; 23.1% and 46.2% of caregivers reported any level of depression and anxiety, respectively, with few additional impacts captured by the surveys.
Some caregivers reported employment and mental health impacts in this study. However, despite many hours spent per week caring for patients with XLRP, the surveys did not reflect the expected burden experienced by caregivers, highlighting the need for further research in this field.
非正式照料者在慢性病患者的医疗保健中发挥着重要作用,包括那些导致视力受损的患者。X连锁视网膜色素变性(XLRP)被认为是视网膜色素变性最严重的形式之一,从儿童期开始导致视力下降,最终在成年期发展为法定失明。照料者预计将在患者护理中发挥越来越重要的作用,但XLRP对照料者的实际影响评估不足。
EXPLORE XLRP-2是一项探索性、多中心、非干预性研究。通过经过验证和新开发的照料者报告结局调查,采用横断面调查直接收集欧洲和以色列照料者的经历。
招募了70名与视网膜色素变性GTP酶调节蛋白(RPGR)突变相关的XLRP患者的照料者,其中68名纳入分析;87.7%的照料者为女性,平均(标准差[SD])年龄为49.4(11.7)岁。他们最常见的身份是患者的配偶(50.8%)或父母(41.5%)。照料者每周平均花费28.7(34.5)小时照顾患者。在有工作的照料者中,72.3%的人兼职工作;在失业的照料者中,27.7%的人将照料责任列为失业原因;分别有23.1%和46.2%的照料者报告有任何程度的抑郁和焦虑,调查几乎未发现其他影响。
在本研究中,一些照料者报告了就业和心理健康受到影响。然而,尽管每周花费大量时间照顾XLRP患者,但调查并未反映出照料者预期的负担,这凸显了该领域进一步研究的必要性。