University of Naples “Frederico II”, Italy
Prof. Raffaele Lorio
Intrahepatic cholestasis in pregnancy (ICP): Bringing out the submerged
To characterize women with ICP exhibiting a progressive familial intrahepatic cholestasis (PFIC) phenotype and to identify which of their children are at risk of cholestasis. The goal is to identify candidates for ileal bile acid transporter treatment.
Bambino Gesù Children Hospital, Italy
Andrea Pietrobattista, MD
Improving care of PFIC patients in clinical practice: Focus on sleep disorders and their negative outcome on patient and caregiver quality of life (QoL)
To provide a detailed analysis of sleep disturbances in infants and children with PFIC. The goal is to inform treatment decisions and facilitate the incorporation of sleep assessment into routine clinical practice.
Toulouse University Hospital, France
Dr Nolwenn Laborde
Bright smile for Bright life
To assess the prevalence of dental problems in French patients with PFIC and other neonatal cholestasis, to evaluate how this impacts patients’ self-esteem and QoL. The goal is to increase disease awareness and advocate for funding of dental care for these patients.
Dutch Liver Patients Association, Netherlands
José Willemse, MSc
It’s going well, right? The hidden burden of parents with a child with liver disease
To develop an impact video that will help parents to vividly explain the challenges of having a child with chronic liver disease has on their everyday life.
University Children’s Hospital Tübingen, Germany
Dr Toni Illhardt
Actigraphy – a tool to assess the degree of pruritus in paediatric cholestatic liver diseases
To assess whether actigraphy can be used effectively to quantify the impact of pruritus on sleep disruption and sleep quality in children with cholestatic liver diseases.
Hospital Papa Giovanni XXIII, Italy
Dr Angelo di Giorgio
Prognostic value of serum bile acid (SBA) levels on disease progression of paediatric patients with PFICs
To assess changes in SBA levels in patients with PFIC, and whether SBA could be a biomarker of disease progression.
University of Naples “Frederico II”, Italy
Prof. Filomena Morisco
ICP: A first manifestation of unknown PFIC
To investigate the potential relationship between ICP and PFIC, including genetic mutations, prevalence and the associated risks of hepatobiliary diseases and cancers.
University Hospital Bologna, Italy
Giovanni Vitale, MD
Optimizing the diagnostic workflow in adult patients with cryptogenic cholestatic liver diseases (CLD) through a genotype-phenotype screening approach using next-generation sequencing analysis
To improve PFIC/CLD/hepatobiliary cancer diagnosis, investigate genotype-phenotype relationships, and define key findings for prognosis and personalized therapies.
CLD - cholestatic liver disease; ICP - intrahepatic cholestasis in pregnancy; PFIC - progressive familial intrahepatic cholestasis; SBA - serum bile acid; QoL - quality of life.