Biliary Atresia Study in Infants and Children

Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following aims: To identify the gene or genes implicated in the etiology of BA; To identify polymorphisms that may be important in disease progression such as HLA polymorphisms; To characterize the natural history of the older, non-transplanted child with BA.

Little is known about the factors that cause biliary atresia nor the factors that influence disease progression. A variety of genetic, autoimmune and environmental influences have been hypothesized to be important. Most studies to date have focused on the neonate and young child with BA, yet the older surviving child with BA can provide important information about genetics, as well as, natural history.

The purpose of this study is to collect the pertinent clinical information, genetic material and body fluid samples to enable investigators to address the following hypotheses:

Hypothesis 1: A genetic defect is a likely causative factor for BA among children with BA and multiple congenital anomalies.

Hypothesis 2: Autoimmune factors are likely to contribute to disease progression or acquisition and can be identified by correlating HLA among children with BA to healthy controls and by comparison of those who develop early complications including, variceal bleed, ascites, and growth failure compared to those who do not.

Hypothesis 3a: Sentinel events such as variceal bleeding, ascites and growth failure are earlier predictors of death or need for liver transplantation than the pediatric end-stage liver disease score (PELD).

Hypothesis 3b: Health related quality of life will be impaired compared to healthy age matched children and relate to severity of illness.

Hypothesis 3c: Growth failure as measured by anthropometrics and nutritional supplementation will be predictive of onset of sentinel events (ascites, variceal bleed, death, and transplant) in the following 24 months.

This study will be performed by the Childhood Liver Disease Research Network (ChiLDReN), a National Institute of Diabetes \& Digestive and Kidney Diseases (NIDDK) funded network.

Eligibility Criteria:
Inclusion Criteria:

1. Participants need to have a confirmed diagnosis of BA determined by chart review including review of pertinent diagnostic biopsy reports, radiologic reports and surgical reports (if surgery was performed).
2. Participants need to be \>6 months of age up to and equal to the age of 20 (participants enrolled at 20 years of age will have one visit).
3. Participants either have their native liver or have a confirmed liver transplantation.
4. Parent, guardian or participant (if 18 years of age or older) is willing to provide informed consent and, when appropriate, the participant is willing to assent.

Exclusion Criteria:

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