Esophageal atresia

Since 2008, our team has coordinated the national registry for esophageal atresia (ReNAtO), which has enabled us to investigate various aspects of patients’ health status at one year of age: nutritional status (Depoortere et al., 2022), prevalence of gastroesophageal reflux (Flatrès et al., 2022), risk of anastomotic stricture recurrence (Aumar et al., 2022), respiratory morbidity (Lejeune et al., 2021), and risks specific to forms associated with fistulas (Sfeir et al., 2021). We have also evaluated management strategies, including prenatal diagnosis (Garabedian et al., 2018 and 2019) and management of gastroesophageal reflux (Flatrès et al., 2022). This body of work has contributed to the development of national (PNDS, HAS, 2019) and international recommendations (Dingemann et al., ERNICA, 2020 and 2021). In addition, our team has contributed to expert recommendations on the management of anastomotic strictures (Ten Kate et al., 2021) and gastrointestinal complications (O’Donnell et al., 2021), as well as to reviews on long-term digestive complications (Aumar et al., 2022) and on the state of the art in esophageal atresia (Van Lennep et al., 2019).

We established a nested longitudinal cohort of patients born between 2010 and 2012 who were reassessed at 6 years of age (COMAD6; inclusions completed in 2017). This cohort enabled us to investigate the long-term health status of these patients, including the prevalence of eosinophilic esophagitis (Lardenois et al., 2019) and the specific characteristics of long-gap esophageal atresia (Bourg et al., 2023). The analysis and dissemination of these data are ongoing, focusing in particular on nutritional status at 6 years of age, changes in nutritional status between 1 and 6 years, respiratory outcomes, and gastroesophageal reflux.

We are continuing the follow-up of this cohort at 13–14 years of age through funding from the ANR Rare Diseases program obtained in 2022 (TransEAsome) This project combines longitudinal clinical and quality-of-life data with an unbiased approach integrating DNA, RNA, protein, and metabolite profiling, initially at the omics level and subsequently through multi-omics analyses. Biological samples will be derived from two studies (Oesomics, funded from 2022 to 2025, and TransEAsome, funded from 2022 to 2028 by the ANR and the DGOS). We are focusing on two types of biological samples: amniotic fluid and esophageal mucosal biopsies. The former aims to ultimately improve prenatal diagnosis, while the latter allows investigation of physiological changes occurring in esophageal atresia at the tissue level. DNA and protein analyses will be performed by the PRISM laboratory (Michel Salzet, U1192, INSERM), RNA analyses by GO@L (Martin Figeac, UMS 2014 US 41 PLBS, University of Lille), metabolic analyses by the INFINITE team (WP1, Jean Lesage), and multi-omics integration by Bilille (UMS 2014 US 41 PLBS, University of Lille).