Biliary Atresia
Conditions
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.
Interventions
OTHERblood sampling
collection of blood sample for preparation of DNA
OTHERskin biopsy sampling
preparation of primary cultures of dermal fibroblasts from skin biopsy sample
OTHERexplanted liver of BA patients sampling
cryoconservation of liver tissue for molecular analyses
Sponsors
Institut National de la Santé Et de la Recherche Médicale, France
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Intervention model description
BA patients and their parents will be enrolled in this study.
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* confirmed diagnosis of biliary atresia in patients * parents of BA patients
Exclusion criteria
* no
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To identify the molecular mechanisms implicated in the etiology of BA | 10 Years | To identify gene(s) and cellular pathways affected in cells and liver tissue of BA patients: sequencing experiments |
Countries
France
Outcome results
None listed