ABSTRACT

Background: Progressive familial intrahepatic cholestasis (PFIC) is an ultra-rare disease with a considerable burden on pediatric patients and their caregivers, impacting quality of life (QoL). The mortality rates highlight a significant need for efficacious treatments. Real-world data on associated costs and QoL are needed to gauge the potential impact of new pharmacological treatments.

Methods: Clinical and socio-economic burden of PFIC on patients/caregivers, health systems, and society will be assessed. Patient/caregiver- and physician-level retrospective cross-sectional data will be collected from the US, UK, France, and Germany, for PFIC types 1, 2, 3.

A representative sample of physicians will provide clinical and resource utilization information using an electronic Case Report Form (eCRF). Patient/caregiver surveys will collect socio-economic and QoL data, enabling assessment of PFIC impact on QoL. Mean costs (direct medical/non-medical, indirect) will be calculated.

The study materials were reviewed by medical professionals and patient representatives and received ethical approval from the University of Chester.

Discussion: The study aims to reveal the unmet medical need, disease burden, resource utilization, and costs of PFIC, to raise awareness with policymakers and healthcare professionals, and provide support for the patient/caregiver community. As novel PFIC therapies recently emerged, this study will yield quantifiable data for health technology assessments.

 抽象的

背景：进行性家族性肝内胆汁淤积（PFIC）是一种极其罕见的疾病，给儿科患者及其护理人员带来相当大的负担，影响生活质量（QoL）。死亡率凸显了对有效治疗的巨大需求。需要有关相关成本和生活质量的真实世界数据来衡量新药物治疗的潜在影响。

方法：将评估 PFIC 对患者/护理人员、卫生系统和社会的临床和社会经济负担。将从美国、英国、法国和德国收集 PFIC 类型 1、2、3 的患者/护理人员和医生层面的回顾性横断面数据。

具有代表性的医生样本将使用电子病例报告表 (eCRF) 提供临床和资源利用信息。患者/护理人员调查将收集社会经济和生活质量数据，以便评估 PFIC 对生活质量的影响。将计算平均成本（直接医疗/非医疗、间接）。

研究材料经过医学专业人士和患者代表的审查，并获得切斯特大学的伦理批准。

讨论：该研究旨在揭示 PFIC 未满足的医疗需求、疾病负担、资源利用和成本，提高政策制定者和医疗保健专业人员的认识，并为患者/护理人员社区提供支持。随着新型 PFIC 疗法最近出现，这项研究将为卫生技术评估提供可量化的数据。