Study to Understand the Molecular Causes of Biliary Atresia by Collecting Blood, Liver, and Skin Samples from Patients and Their Parents

What this Trial Is About

Biliary Atresia BA is a rare disease marked by blockage of bile ducts in newborns, leading to liver damage and early death if untreated. It is the main cause of neonatal cholestasis and liver transplantation in children. This research aims to understand the genetic and molecular causes behind BA, which are not fully known and may involve immune, infectious, and environmental factors. Investigators seek to identify genes and cellular pathways that play a role in the diseases development. Participants in this study will provide samples including blood, explanted liver tissue, and skin biopsies. These samples will be used to prepare DNA and primary dermal fibroblast cultures to allow detailed molecular analysis. The study gathers samples from BA patients and their parents to explore genetic contributions. The study design involves a single group and does not include treatment interventions. During the study, participants will undergo sample collection procedures such as blood draws, liver tissue preservation, and skin biopsies. Researchers will analyze these samples to identify molecular mechanisms involved in BA over a period of up to 10 years. The study includes monitoring and data collection to support genetic and molecular research. Participation duration spans several years with ongoing sample analysis and follow-up.

Molecular Characterization for Understanding Biliary Atresia