Skip to main content
OpenTrials
Completed

NCT Number: NCT05330039

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

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Inborn Errors of Metabolism Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Methylmalonic Aciduria Methylmalonic acidemia Nervous System Diseases Nutritional and Metabolic Diseases Propionic Acidemia Propionic Aciduria Urea Cycle Disorder Urea Cycle Disorders, Inborn

Age range

Up to 18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Children's Hospital

Zurich, 8032, Switzerland

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Children or siblings of children that have been diagnosed with one of the following diseases: any type of UCD, PA or MMA

Exclusion criteria

  • Children or siblings of children that have not been diagnosed with one of the following diseases: any type of UCD, PA or MMA
  • use of an investigational drug or device less than 30 days prior to the study, or current enrollment in another investigational drug or device study less than 30 days prior to the study
  • considered to be poor attendees or unlikely for any reason to be able to comply with the study procedures, in the opinion of the investigator

Treatment and study plan

Primary outcomes

  1. Contribution of micriobiota to disease severity

    Time frame: 6 months

    Assess contribution of intestinal microbiota to disease severity in children that suffer from different forms of IEM via changes in frequencies, absolute colonization levels or strain identity of microbiota species

Secondary outcomes

  1. Disease aggravating microbiota (microbiota target)

    Time frame: 6 months

    Identify members of the intestinal microbiota (species/strains) that are associated with IEM via differential abundance testing (microbiota target)

Sponsors and collaborators

Lead sponsor

Emma Marie Caroline Slack

Other

Collaborators

  • University Children's Hospital

Registry information

Official study title

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

Acronym: IEM

Important dates

Study start
2021
Primary completion
2024
Study completion
2024
First posted
Apr 15, 2022
Registry last updated
Mar 1, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.