Molecular Characterization for Understanding Biliary Atresia (CAVB)

June 3, 2021 updated by: Institut National de la Santé Et de la Recherche Médicale, France
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Anticipated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Paris, France, 75013
    • De
      • Paris, De, France, 75015
        • Recruiting
        • Hopital Necker Enfants Malades
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • ADULT
  • OLDER_ADULT
  • CHILD

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria:

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

Exclusion Criteria:

  • no

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: BASIC_SCIENCE
  • Allocation: NA
  • Interventional Model: SINGLE_GROUP
  • Masking: NONE

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
EXPERIMENTAL: BA patients and their parents
  • Collection of blood samples from BA patients and their parents
  • Collection of explanted liver tissue and skin biopsy of BA patients
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
10 Years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (ACTUAL)

February 7, 2021

Primary Completion (ANTICIPATED)

February 7, 2026

Study Completion (ANTICIPATED)

February 7, 2032

Study Registration Dates

First Submitted

January 28, 2020

First Submitted That Met QC Criteria

February 13, 2020

First Posted (ACTUAL)

February 17, 2020

Study Record Updates

Last Update Posted (ACTUAL)

June 4, 2021

Last Update Submitted That Met QC Criteria

June 3, 2021

Last Verified

June 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • C19-36

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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