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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05330039

Acronym

IEM

Enrollment

Registered

2022-04-15

Start date

2021-11-30

Completion date

2024-02-27

Last updated

2024-03-01

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Brief 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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

No minimum to 18 Years

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

Design outcomes

Primary

Measure	Time frame	Description
Contribution of micriobiota to disease severity	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

Measure	Time frame	Description
Disease aggravating microbiota (microbiota target)	6 months	Identify members of the intestinal microbiota (species/strains) that are associated with IEM via differential abundance testing (microbiota target)

Countries

Switzerland

Outcome results