NCT04272515

Molecular Characterization for Understanding Biliary Atresia

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: Institut National de la Santé Et de la Recherche Médicale, France · Other Government
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Detailed 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.

Conditions

• Biliary Atresia

Interventions

Type	Name	Description
OTHER	blood sampling	collection of blood sample for preparation of DNA
OTHER	skin biopsy sampling	preparation of primary cultures of dermal fibroblasts from skin biopsy sample
OTHER	explanted liver of BA patients sampling	cryoconservation of liver tissue for molecular analyses

Timeline

• Start date: 2021-02-07
• Primary completion: 2026-02-07
• Completion: 2032-02-07
• First posted: 2020-02-17
• Last updated: 2021-06-04

Locations

2 sites across 1 country: France