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

Enterobacteria Strain-level Characterization 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.

Study Overview

• Status: Completed
• Conditions: Inborn Errors of Metabolism; Propionic Aciduria; Methylmalonic Aciduria; Urea Cycle Disorder

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.

• Study Type: Observational
• Enrollment (Actual): 22

Contacts and Locations

• Study Contact: Name: Emma Slack, Prof Dr; Phone Number: +41 44 632 45 91; Email: emma.slack@hest.ethz.ch
• Study Contact Backup: Name: Noemi Meier, Dr; Email: noemeier@ethz.ch

Study Locations

• Switzerland
  • Zürich, Switzerland, 8032
    • University Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 18 years (Child, Adult)
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

The study aims to enroll 40 children that suffer from IEM (UCD, PA, MMA) and their siblings over the course of approximately two years.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Patients with IEM; Collection of biological samples (stool and urine) and health-related data at two timepoints, three to six months apart.
Healthy Siblings; Collection of biological samples (stool) and health-related data at two timepoints, three to six months apart.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Contribution of micriobiota to disease severity	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	6 months

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Emma Marie Caroline Slack
• Collaborators: University Children's Hospital

Study record dates

Study Major Dates

• Study Start (Actual): November 30, 2021
• Primary Completion (Actual): February 27, 2024
• Study Completion (Actual): February 27, 2024

Study Registration Dates

• First Submitted: March 31, 2022
• First Submitted That Met QC Criteria: April 8, 2022
• First Posted (Actual): April 15, 2022

Study Record Updates

• Last Update Posted (Estimated): March 1, 2024
• Last Update Submitted That Met QC Criteria: February 29, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn; Propionic Acidemia
• Other Study ID Numbers: IEM (University of Minnesota)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No