Molecular Characterization for Understanding Biliary Atresia

Biliary Atresia Clinical Trial

— CAVB  

Official title:

Molecular Characterization for Understanding Biliary Atresia

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04272515
• Other study ID #: C19-36
• Status: Recruiting
• Phase: N/A
• Start date: February 7, 2021
• Est. completion date: February 7, 2032

Study information

• Verified date: June 2021
• Source: Institut National de la Santé Et de la Recherche Médicale, France
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: February 7, 2032
• Est. primary completion date: February 7, 2026
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• confirmed diagnosis of biliary atresia in patients

• parents of BA patients

Exclusion Criteria:

• no

Related Conditions & MeSH terms

• Biliary Atresia

Intervention

Other:
• blood sampling
collection of blood sample for preparation of DNA
• skin biopsy sampling
preparation of primary cultures of dermal fibroblasts from skin biopsy sample
• explanted liver of BA patients sampling
cryoconservation of liver tissue for molecular analyses

Locations

Country	Name	City	State
France	Hopital Necker enfants malades	Paris	De
France	PRC Inserm	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Institut National de la Santé Et de la Recherche Médicale, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	To identify the molecular mechanisms implicated in the etiology of BA	To identify gene(s) and cellular pathways affected in cells and liver tissue of BA patients: sequencing experiments	10 Years