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| ID | Type | Description | Link |
|---|---|---|---|
| ANR | Other Grant/Funding Number | ANR-21-CE17-0042 |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Anastomosis group | Other | Esophageal biopsies collected during the anastomosis for the patient with esophageal atresia |
|
| Control group | No Intervention | Esophageal biopsies collected during a standard care endoscopy for patient with esophageal atresia during the first year of life |
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Esophageal biopsy collection during anastomosis | Procedure | During the anastomosis, the surgeon will collect an esophageal mucosa biopsy |
|
| Measure | Description | Time Frame |
|---|---|---|
| Comparison of the mRNA expression from esophageal biopsies between long and short term storage | 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] | The biopsies will be collected during the first year of life |
| Comparison of the metabolites identification from esophageal biopsies between long and short term storage | 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] | The biopsies will be collected during the first year of life |
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Inclusion Criteria:
Born with esophageal atresia Anastomosis performed in Lille hospital Parents consent
- Control group : Born with esophageal atresia
Exclusion Criteria:
Parents refusing to participate in the study
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Lille | Lille | 59007 | France |
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| ID | Term |
|---|---|
| D004933 | Esophageal Atresia |
| ID | Term |
|---|---|
| D004065 | Digestive System Abnormalities |
| D004066 | Digestive System Diseases |
| D004935 | Esophageal Diseases |
| D005767 | Gastrointestinal Diseases |
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| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |