Description

At the occasion of the Rare Liver Diseases Month, and EASL Studio hosted a special episode on the topic.
This episode focused on rare liver diseases, in particular, Progressive Familial Intrahepatic Cholestasis (PFIC). Discussions covered:

  • Clinical presentation of PFIC
  • Current therapeutic options
  • The introduction of IBAT/ASBT inhibitors and their impact
  • Clinical trials
  • Orphan drugs approved for PFIC
  • Interview with EMA on the orphan drug programme

This EASL Studio episode was supported by Albireo Pharma and Mirum Pharmaceuticals.

ℹ️ Please click here to access the podcast version of this EASL Studio episode.

 

Faculty

 
Verena Keitel Verena Keitel is Head of the Department of Gastroenterology, Hepatology and Infectious Diseases at the University Hospital Magdeburg in Germany. Her clinical and research focus are in cholestatic and hereditary liver diseases and the improvement of patient care. She is coordinator of a translational network for hereditary intrahepatic cholestasis (HiChol).
Thomspon Richard Thompson is Professor of Molecular Hepatology at King’s College London, and Honorary Consultant Paediatric Hepatologist at King’s College Hospital, London. His group identified BSEP and TJP2 as causes of PFIC; several other genes are on their way. Recent discoveries have been through the application of Whole Exome Sequencing. He is a member of the NIDDK-funded ChiLDReN collaboration. At King’s College Hospital Professor Thompson runs a diagnostic laboratory, using targeted Next Generation Sequencing, for genes involved and cholestasis and other liver phenotypes, and is the Clinical Lead for the 100,000 Genomes Project.
Verkade Henkjan J. Verkade is a pediatric gastro/hepatologist at the Beatrix Children’s Hospital of the University Medical Center Groningen, The Netherlands. He received his PhD degree in Medicine cum laude at the University of Groningen on the thesis entitled “Lipid absorption and metabolism”. Henkjan Verkade was a post-doctoral fellow at the University of Alberta, Edmonton, Canada. Henkjan Verkade combines clinical work in pediatric gastro/hepatology with clinical and fundamental research projects. He is a member of national and international professional associations and organizations. For the European Society Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN), he served as Chair of the Hepatology Committee and member of the Council (2016-2020). His current research projects involve intestinal lipid absorption and metabolism, the enterohepatic circulation, and pediatric liver disease (biliary atresa, liver transplantation, familial cholestatic syndromes). He has authored more than 250 peer-reviewed publications and more than 15 book chapters. Since 2019, he is associate editor of the Journal of Pediatric Gastroenterology and Nutrition. He has supervised 45 PhD students up till successful completion of their thesis.

Special participation

Kristina Larsson, European Medical Agency

Industry representatives

 
Villy Dr Valcheva is the VP, Head of Medical Affairs Europe at Albireo Pharma. For 2 years she has been building and leading the medical organization in Europe with dedication to provide hope to patients and their families with rare liver diseases such as PFIC, Alagille syndrome and Biliary atresia. Velichka (Villy) has more than 20 years of experience in the pharmaceutical industry including medical leadership positions across multiple disease areas. Before joining Albireo, she worked extensively in the area of oncology, most recently as the Global Medical Lead for Liver Cancer at Ipsen. In addition, she worked in cardiovascular and rare diseases as the Global Medical Lead for Familial Hypercholesterolemia at Sanofi.
Pamela Vig Dr Pamela Vig, Ph.D, is head of R&D at Mirium, where she leads the scientific and clinical aspects of drug development and research, and medical affairs. She has more than 25 years of industry experience in clinical development, medical affairs and translational science in various liver diseases including hepatitis B (HBV), hepatitis C (HCV), nonalcoholic steatohepatitis (NASH), primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), and cholestatic liver disease. She has held leadership roles as vice president of clinical research and discovery at Allergan plc and Tobira, as well as vice president of clinical research at Presidio Pharmaceuticals, Inc. She also served as director, global medical affairs, at Johnson & Johnson, and has held positions in clinical research and development at Idenix Pharmaceuticals and Gilead Sciences, Inc. She is currently a member of the PSC Forum Steering Committee as well as co-chair for the pediatric cholestatic disease working group under the Forum for Collaborative Research.