Biliary Atresia Study in Infants and Children

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Biliary Atresia Study in Infants and Children (BASIC)

Conditions
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Biliary Atresia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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). 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). Participants either have their native liver or have a confirmed liver transplantation. 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: 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.

Ages Eligible for Study
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Minimum Age: 6 Months
Maximum Age: 20 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| 1<br>Biliary atresia subjects who have their native liver | |
| 2<br>Biliary atresia subjects who have had a liver transplant | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To identify the gene or genes implicated in the etiology of BA | The genetics of BA may be investigated on two levels. The first is to identify a group of patients whose etiology is a result of a genetic defect and the second is to examine the influence of genetics on disease acquisition. | Specimens for this aim are collected once during study, usually at baseline. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To identify polymorphisms that may be important in disease progression such as Human leukocyte antigen (HLA) polymorphisms |  | Specimens for this aim are collected once during study, usually at baseline. | 
| Define the natural history of the older, non-transplanted child with biliary atresia | Understanding the natural history of a disease is a prerequisite to interpreting disease severity, identifying patterns of illness, identifying early predictors of outcome and understanding the advantages or trade-offs of therapeutic interventions. | Observational information collected at entrance into study as well as at each yearly follow-up visit. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Biliary Atresia, Cholestasis