Molecular Characterization for Understanding Biliary Atresia (CAVB)

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

Status: Enrolling

Conditions: Biliary Atresia

Treatments: Other: explanted liver of BA patients sampling; Other: skin biopsy sampling; Other: blood sampling

Study type: Interventional

Funder types: Other

Identifiers

NCT04272515

C19-36

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• no

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

---

100 participants in 1 patient group

BA patients and their parents

Experimental group

Description:

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

Treatment:

Other: blood sampling

Other: explanted liver of BA patients sampling

Other: skin biopsy sampling