Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study

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 significant need for efficacious treatments. Real-world data associated costs QoL are needed to gauge the potential impact new pharmacological treatments.Methods: Clinical socio-economic PFIC patients/caregivers, health systems, society will be assessed. Patient/caregiver- physician-level retrospective cross-sectional collected from US, UK, France, Germany, types 1, 2, 3.A representative sample physicians provide clinical resource utilization information using electronic Case Report Form (eCRF). Patient/caregiver surveys collect data, enabling assessment QoL. Mean (direct medical/non-medical, indirect) calculated.The study materials were reviewed by medical professionals patient representatives received ethical approval University Chester.Discussion: aims reveal unmet need, burden, utilization, PFIC, raise awareness policymakers healthcare professionals, support patient/caregiver community. As novel therapies recently emerged, this yield quantifiable technology assessments.