Biliary Atresia Study in Infants and Children (BASIC)

General Description

The Childhood Liver Disease Research Network (ChiLDReN) is a consortium committed to research into the etiology, pathogenesis, and treatment of rare pediatric liver diseases. Biliary atresia, one disorder studied by the consortium, is characterized by destruction or discontinuity of the extrahepatic biliary system, which results in obstruction to bile flow. Little is known about either the cause of biliary atresia or the factors that influence disease progression. The Biliary Atresia Study in Infants and Children (BASIC) is a prospective, observational study that was established by ChiLDReN to collect pertinent clinical information and biospecimens to aid in the understanding of the disorder. Specific aims of the study include identifying the gene(s) implicated in the etiology of biliary atresia, identifying the polymorphisms that may influence disease progression, and characterizing the natural history of the older, non-transplanted patients with biliary atresia.

Patients between the ages of 6 months and 20 years with a confirmed diagnosis of biliary atresia are eligible to participate in the study. Following enrollment, participants are separated into two cohorts: those who have their native liver and those who have received a liver transplant. Clinical information, including medical history, and biospecimens are collected at baseline. Those with their native liver will have clinical information collected annually up to 20 years of age. Genetic analyses are performed on the biospecimens provided to identify the gene(s) and polymorphisms implicated in the etiology and progression of biliary atresia.

Objectives

Specific aims of the study include identifying the gene(s) implicated in the etiology of biliary atresia, identifying the polymorphisms that may influence disease progression, and characterizing the natural history of the older, non-transplanted patients with biliary atresia.

Criteria

Patients between the ages of 6 months and 20 years who meet the following criteria are eligible for enrollment:

• Have a confirmed diagnosis of biliary atresia determined chart review, including review of pertinent diagnostic biopsy reports, radiologic reports, and/or surgical reports
• Have their native liver or have a confirmed liver transplantation

Exclusion criteria:

• Currently participating in the ChiLDReN study PROBE
• Inability to confirm original diagnostic evaluation of biliary atresia
• Inability or unwillingness of family or participant to participate in all scheduled visits

Outcome

This study is ongoing.