6533b829fe1ef96bd128a473

RESEARCH PRODUCT

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

Melanie KarakaidosKaren F. MurrayJörn M. SchattenbergAnil DhawanSonia O'haraJosé WillemseEmily VenturaClaudia MighiuHarpreet BrrangLeonardo Ruiz-casasAlan FinneganAlison Taylor

subject

medicine.medical_specialtyATP Binding Cassette Transporter Subfamily BCaregiver BurdenDiseaseCholestasis Intrahepatic03 medical and health sciences0302 clinical medicineQuality of lifeCost of IllnessSurveys and QuestionnairesMedicineHumansPharmacology (medical)030212 general & internal medicineCase report formDisease burdenHealth policyRetrospective Studiesbusiness.industry030503 health policy & servicesHealth PolicyMortality rateProgressive familial intrahepatic cholestasisHealth technologyGeneral Medicinemedicine.diseaseCross-Sectional StudiesSocioeconomic FactorsFamily medicineQuality of Life0305 other medical sciencebusinessDelivery of Health Care

description

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.

https://dx.doi.org/10.6084/m9.figshare.13536262