Molecular Characterization for Understanding Biliary Atresia

Not Applicable

Recruiting

• Conditions: Biliary Atresia
• Interventions: Other: blood sampling; Other: skin biopsy sampling; Other: explanted liver of BA patients sampling

• Registration Number: NCT04272515
• Lead Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Brief 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.

Study Timeline

• Study First Submitted: 2020-01-28
• Study First Submitted QC: 2020-02-13
• Study First Posted: 2020-02-17
• Study Start: 2021-02-07
• Status Verified: 2021-06
• Last Update Submitted: 2021-06-03
• Last Update Posted: 2021-06-04
• Primary Completion: 2026-02-07
• Study Completion: 2032-02-07

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• confirmed diagnosis of biliary atresia in patients
• parents of BA patients

Exclusion Criteria

• no

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
BA patients and their parents	blood sampling	* Collection of blood samples from BA patients and their parents * Collection of explanted liver tissue and skin biopsy of BA patients
BA patients and their parents	skin biopsy sampling	* Collection of blood samples from BA patients and their parents * Collection of explanted liver tissue and skin biopsy of BA patients
BA patients and their parents	explanted liver of BA patients sampling	* Collection of blood samples from BA patients and their parents * Collection of explanted liver tissue and skin biopsy of BA patients

Primary Outcome Measures

Name	Time	Method
To identify the molecular mechanisms implicated in the etiology of BA	10 Years	To identify gene(s) and cellular pathways affected in cells and liver tissue of BA patients: sequencing experiments

Trial Locations

Locations (2)

Hopital Necker enfants malades; 🇫🇷 Paris, De, France

PRC Inserm; 🇫🇷 Paris, France