Molecular Characterization for Understanding Biliary Atresia

Study Overview
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Brief Summary
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Although considered a rare disease, Biliary Atresia (BA) is the leading cause of neonatal cholestasis and liver transplantation in children. Little is known about the molecular mechanisms that drive BA. The purpose of this study is to collect the fluid samples, explanted liver tissue samples and dermal biopsy samples to enable investigators to perform the genetic and molecular analyses that might point to the gene(s) and cellular pathway involved in etiology of BA disease.

Detailed Description
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Biliary atresia (BA) is a disease characterized by intra- and extra-hepatic bile duct obstruction diagnosed in the neonatal period. If left untreated, this obstruction leads to biliary cirrhosis and early death. Although considered a rare disease (between 1/15,000 and 1/20000 births), it is the leading cause of neonatal cholestasis and liver transplantation in children. The reasons for this obstruction are still poorly known and might involve several factors (immune, infectious and possible toxin effect). The accumulating evidence point to genetic factors involved, yet they are not of the classic monogenic or Mendelian types. The purpose of this study is to collect the fluid samples, explanted liver tissue samples and dermal biopsy samples to enable investigators to perform the genetic and molecular analyses that might point to the gene(s) and cellular pathway involved in etiology of BA disease.

Official Title
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Molecular Characterization for Understanding Biliary Atresia

Conditions
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Biliary Atresia

Intervention / Treatment
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* Other: blood sampling
* Other: skin biopsy sampling
* Other: explanted liver of BA patients sampling


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: confirmed diagnosis of biliary atresia in patients parents of BA patients Exclusion Criteria: no
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Intervention Model: Single Group Assignment
Interventional Model Description: BA patients and their parents will be enrolled in this study.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: BA patients and their parents<br>Collection of blood samples from BA patients and their parents Collection of explanted liver tissue and skin biopsy of BA patients | Other: blood sampling<br>* collection of blood sample for preparation of DNA<br>Other: skin biopsy sampling<br>* preparation of primary cultures of dermal fibroblasts from skin biopsy sample<br>Other: explanted liver of BA patients sampling<br>* cryoconservation of liver tissue for molecular analyses<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To identify the molecular mechanisms implicated in the etiology of BA | To identify gene(s) and cellular pathways affected in cells and liver tissue of BA patients: sequencing experiments | 10 Years |