Study to Understand Genetic and Developmental Causes of Biliary Atresia and Its Effects on Liver Health in Children Undergoing or Awaiting Liver Transplant

What this Trial Is About

Researchers are studying biliary atresia BA, a rare childhood liver disease that causes bile drainage failure and often leads to liver failure requiring transplantation. This research aims to understand the genetic and developmental causes of BA, which includes both isolated cases possibly due to viral infection and syndromic cases linked to genetic factors. The study combines genetic analysis with human tissue and animal models to uncover the pathways involved in this complex disease. The study collects human DNA samples from 1100 individuals with BA and their family members, using these to identify susceptibility genes. Samples and data from major pediatric liver transplant centers worldwide are analyzed with advanced bioinformatics and experimental models like zebrafish. The goal is to map genetic pathways that explain the diseases effects on the liver and other organs. Participants provide DNA samples and clinical information. Researchers study these samples alongside liver tissue and animal models to measure genomic pathways related to BA over two years, with extended observation for genetic predisposition outcomes over four years. This study involves no interventions but focuses on detailed genetic and developmental assessments to inform future management of BA.

Mapping Disease Pathways for Biliary Atresia