Referring Physician:  Alexandre FABRE
alexandre.fabre@ap-hm.fr

Summary of the study

Congenital diarrhoea caused by an abnormality of the epithelium (genes: SKIV2L, TTC37, EPCAM, SPINT2, MYO5B, STX3, STXBP2, TTC7A) and/or entero-endocrine cells (genes: NEUROG3, PCSK1) are rare diseases.

In France, these patients are monitored in specialized centres and this networked organization allows us to provide a retrospective study on the evaluation of morbidity and mortality and growth of the patients. As these diseases are very rare, there is little follow-up data on this cohort monitored in France.

Therefore, we propose to carry out a retrospective multicentre epidemiological study, bringing together morbidity (parenteral, infections), mortality and the main anthropometric data of children monitored in France for enteropathy of genetic origin requiring prolonged parenteral nutrition. The medical data will be collected in the patient’s file, with the agreement of each centre, via a CRF completed by the Marseille team.

Status:

Study in progress.