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

Study Overview
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Brief Summary
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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
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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.

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

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

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with IEM<br>Collection of biological samples (stool and urine) and health-related data at two timepoints, three to six months apart. | |
| Healthy Siblings<br>Collection of biological samples (stool) and health-related data at two timepoints, three to six months apart. | |

What is the study measuring?
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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 |