Molecular Characterization for Understanding Biliary Atresia

NCT04272515 | Recruiting

• 1 other identifier: C19-36
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 2

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.

Conditions

Biliary Atresia

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

BA patients and their parents

EXPERIMENTAL

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

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

Interventions

blood sampling OTHER

collection of blood sample for preparation of DNA

BA patients and their parents

skin biopsy sampling OTHER

preparation of primary cultures of dermal fibroblasts from skin biopsy sample

BA patients and their parents

explanted liver of BA patients sampling OTHER

cryoconservation of liver tissue for molecular analyses

BA patients and their parents

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

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

Sponsors & Collaborators

• Institut National de la Santé Et de la Recherche Médicale, France: lead

Study Sites (2)

Hopital Necker enfants malades

Paris, De, 75015, France

RECRUITING

PRC Inserm

Paris, 75013, France

NOT YET RECRUITING

MeSH Terms

Conditions

Biliary Atresia

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

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

Study Record Dates

• First Submitted: January 28, 2020
• First Posted: February 17, 2020
• Study Start: February 7, 2021
• Primary Completion: February 7, 2026
• Study Completion (Estimated): February 7, 2032
• Last Updated: June 4, 2021

Record last verified: 2021-06

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)