https://orcid.org/0000-0002-9119-8336
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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.
Abbreviations
| AFP | = | Alpha fetoprotein |
| ALT | = | Alanine aminotransferase |
| AST | = | Aspartate aminotransferase |
| BAT | = | Biliary acid transporter |
| BOI | = | Burden of illness |
| BSEP | = | Bile Salt Exporter Pump |
| CarerQol | = | Care-related Quality of Life instrument |
| CBC | = | Complete blood count |
| CEA | = | Cost-effectiveness analysis |
| eCRF | = | electronic Case Report Form |
| EM | = | Electron microscopy |
| ERG | = | Expert Review Group |
| ESLD | = | End-Stage Liver Disease |
| GGT | = | Gamma glutamyl transpeptidase |
| HRQoL | = | Health-Related Quality of Life |
| MRCP | = | Magnetic resonance cholangiopancreatography |
| MRE | = | Magnetic resonance elastography |
| MRI | = | Magnetic resonance imaging |
| MTC | = | Mean total cost |
| PBD | = | Partial biliary diversion |
| PFIC | = | Progressive Familial Intrahepatic Cholestasis |
| PPIE | = | Patient, Public Involvement and Engagement |
| PRO | = | Patient reported outcomes |
| PT | = | Prothrombin |
| QoL | = | Quality of life |
| TC | = | Total cost |
| TSH | = | Thyroid stimulating hormone |
| UDCA | = | Ursodeoxycholic Acid |
| WPAI | = | Work Productivity and Activity Impairment |
Declaration of interest
Leonardo Ruiz-Casas, Claudia Mighiu and Sonia O’Hara are salaried employees of HCD Economics, the healthcare consultancy firm conducting the study. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.
Reviewers disclosure
Peer reviewers on this manuscript have no relevant financial relationships or otherwise to disclose.
Author contributions
Leonardo Ruiz-Casas provided contribution to study design and governance. Sonia O’Hara and Claudia Mighiu were responsible for write-up and ongoing critical review of the article.
KOLs: Professor Alan Finnegan provided feedback in preparation for the ethical submission of the study protocol and materials. Alison Taylor, Professor Jorn M Schattenberg, Doctor Anil Dhawan, Doctor Karen F Murray, Jose Willemse, Emily Ventura, Melanie Karakaidos and Harpreet Brrang were responsible for ongoing study review and feedback regarding design, data collection, analysis and critical review of the manuscript.
Supplementary material
Supplemental data for this article can be accessed here.