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NCT Number: NCT04272515

Molecular Characterization for Understanding Biliary Atresia

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.

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Key information

Conditions

Biliary Atresia Bile Duct Diseases Biliary Tract Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Digestive System Abnormalities Digestive System Diseases

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Hopital Necker enfants malades, Paris, De, France

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About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

  • no

Treatment and study plan

Blood sampling

Other

collection of blood sample for preparation of DNA

skin biopsy sampling

Other

preparation of primary cultures of dermal fibroblasts from skin biopsy sample

explanted liver of BA patients sampling

Other

cryoconservation of liver tissue for molecular analyses

Primary outcomes

  1. To identify the molecular mechanisms implicated in the etiology of BA

    Time frame: 10 Years

    To identify gene(s) and cellular pathways affected in cells and liver tissue of BA patients: sequencing experiments

Sponsors and collaborators

Lead sponsor

Institut National de la Santé Et de la Recherche Médicale, France

Other Gov

Registry information

Acronym: CAVB

Important dates

Study start
2021
Primary completion
2026
Study completion
2032
First posted
Feb 17, 2020
Registry last updated
Jul 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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