NCT05330039

Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)

Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 22 (actual)
• Sponsor: Emma Marie Caroline Slack · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

Study around children with inborn errors of metabolism (IEM) and their healthy siblings. Collection of stool and urine to assess contribution of microbiota to disease severity.

Detailed description

This study aims to collect biological samples (stool and urine) from children with inborn errors of metabolism, IEM (like UCD (urea cycle disorder), PA (propionic aciduria) and MMA (methylmalonic aciduria) and their healthy siblings. The main focus of the study is to assess the contribution of the intestinal microbiota to disease severity in children that suffer from different forms of IEM and potentially find microbiota targets that could be used in the design of therapeutic/prophylactic agents.

Conditions

• Inborn Errors of Metabolism
• Propionic Aciduria
• Methylmalonic Aciduria
• Urea Cycle Disorder

Timeline

• Start date: 2021-11-30
• Primary completion: 2024-02-27
• Completion: 2024-02-27
• First posted: 2022-04-15
• Last updated: 2024-03-01

Locations

1 site across 1 country: Switzerland