Esophageal Atresia
Conditions
Keywords
esophageal atresia, epigenetic, proteomics, metabolomics
Brief summary
Although several studies have revealed signaling pathways as well as genes potentially involved in the development of esophageal atresia (EA), our understanding of the pathophysiology of EA lags behind improvements in the surgical and clinical care of patients born with this anomaly. However, a causative genetic abnormality can be identified in less than 10% of patients, even using more recent next-generation sequencing techniques. As most cases of EA associated with tracheoesophageal fistula (TOF) are sporadic, and the familial recurrence rate is low (1%), this suggests that epigenetic and environmental factors also contribute to the disease. Further investigations are needed to better understand the mechanisms underlying EA. That information can come from the oesophageal biopsies that are collected in routine care and long-term storage at the hospital. However, the impact of the length of the storage is still unknown.
Interventions
PROCEDUREEsophageal biopsy collection during anastomosis
During the anastomosis, the surgeon will collect an esophageal mucosa biopsy
Sponsors
University Hospital, Lille
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
BASIC_SCIENCE
Masking
SINGLE (Outcomes Assessor)
Eligibility
Sex/Gender
ALL
Age
1 Days to 1 Years
Healthy volunteers
No
Inclusion criteria
* Anastomosis group : Born with esophageal atresia Anastomosis performed in Lille hospital Parents consent \- Control group : Born with esophageal atresia
Exclusion criteria
* Both groups : Parents refusing to participate in the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Comparison of the mRNA expression from esophageal biopsies between long and short term storage | The biopsies will be collected during the first year of life | Transcriptomic profiles will be generated by the identification of mRNA and miRNA expression by 3'RNA-seq and sRNA-seq technologies. Differential expression between long and short term storage will be performed.\[exploratory and untargeted analysis\] |
| Comparison of the metabolites identification from esophageal biopsies between long and short term storage | The biopsies will be collected during the first year of life | Metabolomic profiles will be generated (untargeted analysis that will include mnulmerous lipids, amino-acids, ...). Differential expression between long and short term storage will be performed. \[exploratory and untargeted analysis\] |
Countries
France
Outcome results
None listed