Molecular Characterization for Understanding Biliary Atresia
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- STATUS
- Recruiting
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- End date
- Feb 7, 2032
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- participants needed
- 100
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- sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Summary
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.
Description
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.
Details
| Condition | Biliary Atresia |
|---|---|
| Treatment | blood sampling, skin biopsy sampling, explanted liver of BA patients sampling |
| Clinical Study Identifier | NCT04272515 |
| Sponsor | Institut National de la Santé Et de la Recherche Médicale, France |
| Last Modified on | 13 June 2021 |
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