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| Name | Class |
|---|---|
| University Children's Hospital | OTHER |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
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| 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 |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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The study aims to enroll 40 children that suffer from IEM (UCD, PA, MMA) and their siblings over the course of approximately two years.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Children's Hospital | Zurich | 8032 | Switzerland |
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| ID | Term |
|---|---|
| D008661 | Metabolism, Inborn Errors |
| D056693 | Propionic Acidemia |
| C537358 | Methylmalonic acidemia |
| D056806 | Urea Cycle Disorders, Inborn |
| ID | Term |
|---|---|
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
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| D000592 | Amino Acid Metabolism, Inborn Errors |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |