Description

This joint ERN RARE-LIVER Webinar was held on 4 March 2025 with the University Hospital Aachen and The Children’s Memorial Health Institute Warsaw.

Alpha1-antitrypsin deficiency-associated liver disease (AATD-LD) is an emerging liver disorder caused by mutations in alpha1-antitrypsin (AAT) gene. The liver-related risks are dependent on the underlying genotype as well as presence of additional risk factors such as obesity of diabetes. It is caused by the proteotoxic stress elicited by the mutated, misfolded AAT that accumulates in the liver. Due to the well-understood pathogenesis, AATD-LD is an attractive target of multiple drug candidates that are in different stages of development.

Since the last AATD webinar, there are several important developments that should be discussed: 

  1. New EASL guideline;
  2. Availability of longitudinal data the provides guidance for clinical management of AATD patients
  3. Several drug candidates entered clinical trials; one of them is in a phase 3 trial and therefore potentially available

Chair

  
Pavel Strnad

 

Pavel Strnad is a full professor and leading physician at the University Hospital Aachen, Germany. Since 2008, he is heading his own research lab focusing on translational gastroenterology. In 2016, he was named one of the Rising Stars of the United European Gastroenterology. He is heading the European initiative for study of alpha1-antitrypsin deficiency-associated liver disease. His interest include (but are not limited to) metabolic liver disease, liver cirrhosis and complications, keratins and iron metabolism. His clinical focus is on emerging drugs, end-stage liver disease and liver transplantation.

 

Speakers

  
Piotr Socha

Piotr Socha is a Professor of Pediatrics & Gastroenterology in the Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics and the Deputy Director for Research in The Children’ s Memorial Health Insitute (CMHI) in Warsaw which is the referral pediatric hospital for Poland. His research and clinical work were mainly devoted to cholestatic liver disease, non-alcoholic fatty liver disease, rare metabolic liver diseases (eg. Wilson disease, newly described PGM-1), nutrition in hepatology and gastroenterology (eg. LCPUFA deficiency), obesity prevention and therapy, feeding disorders, protracted diarrhea and inflammatory bowel disease of infancy and early childhood. Piotr Socha was the chair of the Hepatology Committee of ESPGHAN (2010-2013) and the Scientific Secretary of ESPGHAN (2015-2018). Piotr Socha contributes/contributed to 8 EU projects (CHOP, EUROWILSON, EARNEST, PERFECT, NUTRIMENTHE, TOYBOX, EARLY NUTRITION; Kids4Life). He was the president of the Polish Society for Pediatric Gastroenterology, Hepatology and Nutrition. He published ca 500 peer reviewed papers (180 indexed in PubMed) and contributed to 40 book chapters. 
Malin Fromme

Malin Fromme is a physician scientist at the University Hospital RWTH Aachen, Germany. In 2017, she started working in the European alpha-1 antitrypsin deficiency (AATD) liver consortium and obtained her MD degree in 2020. Meanwhile, she is responsible for the management of the European AATD liver consortium and published several high-impact papers in the field. As young, rising AATD star she received several awards related to her research.

 

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