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

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

NCT05330039•Emma Marie Caroline Slack

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.

Eligibility

Age

0 - 18 years

Sex

ALL

Healthy Volunteers

Yes

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

Locations (1)

University Children's Hospital

Zurich, Switzerland

Key Dates

Start Date

November 30, 2021

Primary Completion Date

February 27, 2024

Completion Date

February 27, 2024

Last Updated

March 1, 2024

Enrollment

ACTUAL participants

Conditions

Inborn Errors of MetabolismPropionic AciduriaMethylmalonic AciduriaUrea Cycle Disorder

Institutional Registry of Rare Diseases

NCT06573723

Rare DiseasesAmyloidosis+24 more

View study

RECRUITINGNA

Education & Care in RARE: Efficacy of Targeted Psychoeducational Intervention Among Pediatric Rare Disease Patients

NCT06729554

Orphan DiseasesRare Disorders+2 more

View study

Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: March 1, 2024Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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

Inclusion Criteria

Exclusion Criteria

Institutional Registry of Rare Diseases

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