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Molecular Characterization for Understanding Biliary Atresia (CAVB)

Primary Purpose

Biliary Atresia

Status

Recruiting

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

blood sampling

skin biopsy sampling

explanted liver of BA patients sampling

About this trial

This is an interventional basic science trial for Biliary Atresia

Eligibility Criteria

undefined - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

Inclusion Criteria:

confirmed diagnosis of biliary atresia in patients
parents of BA patients

Exclusion Criteria:

Sites / Locations

Hopital Necker enfants maladesRecruiting
PRC Inserm

Arms of the Study

Arm 1

Arm Type

Experimental

Arm Label

BA patients and their parents

Arm Description

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

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Full Information

NCT ID

NCT04272515

First Posted

January 28, 2020

Last Updated

June 3, 2021

Sponsor

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

1. Study Identification

Unique Protocol Identification Number

NCT04272515

Brief Title

Molecular Characterization for Understanding Biliary Atresia

Acronym

CAVB

Official Title

Molecular Characterization for Understanding Biliary Atresia

Study Type

Interventional

2. Study Status

Record Verification Date

June 2021

Overall Recruitment Status

Recruiting

Study Start Date

February 7, 2021 (Actual)

Primary Completion Date

February 7, 2026 (Anticipated)

Study Completion Date

February 7, 2032 (Anticipated)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

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

4. Oversight

Studies a U.S. FDA-regulated Drug Product

Studies a U.S. FDA-regulated Device Product

Data Monitoring Committee

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Biliary Atresia

7. Study Design

Primary Purpose

Basic Science

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Model Description

BA patients and their parents will be enrolled in this study.

Masking

None (Open Label)

Allocation

N/A

Enrollment

100 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title

BA patients and their parents

Arm Type

Experimental

Arm Description

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

Intervention Type

Other

Intervention Name(s)

blood sampling

Intervention Description

collection of blood sample for preparation of DNA

Intervention Type

Other

Intervention Name(s)

skin biopsy sampling

Intervention Description

preparation of primary cultures of dermal fibroblasts from skin biopsy sample

Intervention Type

Other

Intervention Name(s)

explanted liver of BA patients sampling

Intervention Description

cryoconservation of liver tissue for molecular analyses

Primary Outcome Measure Information:

Title

To identify the molecular mechanisms implicated in the etiology of BA

Description

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

Time Frame

10 Years

10. Eligibility

Sex

All

Accepts Healthy Volunteers

Eligibility Criteria

Inclusion Criteria: confirmed diagnosis of biliary atresia in patients parents of BA patients Exclusion Criteria: no

Facility Information:

Facility Name

Hopital Necker enfants malades

City

Paris

State/Province

ZIP/Postal Code

75015

Country

France

Individual Site Status

Recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Muriel Girard, MD

Phone

01 44 49 44 12

muriel.girard@aphp.fr

Facility Name

PRC Inserm

City

Paris

ZIP/Postal Code

75013

Country

France

Individual Site Status

Not yet recruiting

Facility Contact:

First Name & Middle Initial & Last Name & Degree

Ganna PANASYUK, Dr

Phone

0172606387

ganna.panasyuk@inserm.fr

12. IPD Sharing Statement

Plan to Share IPD

Learn more about this trial

Molecular Characterization for Understanding Biliary Atresia

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