Leonardo Ruiz-Casas1, Sonia O'Hara2, Claudia Mighiu2, Alan Finnegan3, Alison Taylor4, Emily Ventura5, Anil Dhawan6, Karen F Murray7, Jorn Schattenberg8, Jose Willemse9, Melanie Karakaidos5, Harpreet Brrang4. 1. HCD Economics, Madrid, Spain. 2. HCD Economics, Daresbury, UK. 3. Faculty of Health and Social Care, University of Chester, UK. 4. Children's Liver Disease Foundation, Birmingham, UK. 5. PFIC Advocacy and Resource Network, KY, United States. 6. Pediatric Liver GI and Nutrition Center, King's College Hospital, London, UK. 7. Pediatric Institute, Cleveland Clinic Children's Hospital, Cleveland, OH, United States. 8. University Medical Center of the Johannes Gutenberg-University, Mainz, Germany. 9. Dutch Liver Patient Association (NLV), Hoogland, Netherlands.
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.
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.
Entities:
Keywords:
HRQOL; PFIC; Progressive familial intrahepatic cholestasis; burden of illness; pediatric liver disease; quality of life