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

NCT05330039 | Completed

• 1 other identifier: IEM
• Study Type: observational
• Target: 22
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Disease aggravating microbiota (microbiota target)

  6 months

Study Arms (2)

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.

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64)
• 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.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Emma Marie Caroline Slack: lead
• University Children's Hospital: collaborator

Study Sites (1)

University Children's Hospital

Zurich, 8032, Switzerland

Location

MeSH Terms

Conditions

Metabolism, Inborn Errors; Propionic Acidemia; Methylmalonic acidemia; Urea Cycle Disorders, Inborn

Condition Hierarchy (Ancestors)

Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Prof. Dr.

Study Record Dates

• First Submitted: March 31, 2022
• First Posted: April 15, 2022
• Study Start: November 30, 2021
• Primary Completion: February 27, 2024
• Study Completion: February 27, 2024
• Last Updated: March 1, 2024

Record last verified: 2024-02

Data Sharing

• IPD Sharing: Will not share

Locations

CH (1)