Inborn Errors of MetabolismIEMNCT05330039
Characterization of Intestinal Microbiota in Children With Inborn Errors of Metabolism (IEM)
An observational study of Inborn Errors of Metabolism and Propionic Aciduria, run by Emma Marie Caroline Slack at 1 site in Switzerland.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 18 yearsHealthy volunteers can take part
- Conditions the study is for
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria
- How many people
- 22 participants
- Where
- 1 siteSwitzerland
- Study dates
- 30 Nov 2021to 27 Feb 2024
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 18 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
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.
Who may be able to join
- Children or siblings of children that have been diagnosed with one of the following diseases: any type of UCD, PA or MMA
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
About this study
Official title: 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.
Read the 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.
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Medical subject headings
- Metabolism, Inborn Errors, Propionic Acidemia, Methylmalonic acidemia, Urea Cycle Disorders, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 6 months
Secondary outcomes (1)
Disease aggravating microbiota (microbiota target)
Identify members of the intestinal microbiota (species/strains) that are associated with IEM via differential abundance testing (microbiota target)
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Apr 2022
- Study start30 Nov 2021
- Primary completion27 Feb 2024
- Study completion27 Feb 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inborn Errors of MetabolismStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 22 participants (actual)
Sponsor and investigators
- Lead sponsor
- Emma Marie Caroline Slack
- Sponsor type
- University, hospital or other
- Collaborators
- University Children's Hospital
- Responsible party
- Sponsor-investigator, Emma Marie Caroline Slack, ETH Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05330039
- Sponsor's protocol ID
- IEM
- Acronym
- IEM
- Status last verified
- Feb 2024
- First submitted
- 31 Mar 2022
- Last updated
- 1 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 1 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Enterobacteria Strain-level Characterization in Children With Inborn Errors of Metabolism (IEM)
- ClinicalTrials.gov ID
- NCT05330039
- Acronym / sponsor ID
- IEM / IEM
- Conditions
- Inborn Errors of Metabolism, Propionic Aciduria, Methylmalonic Aciduria, Urea Cycle Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 22 participants (actual)
- Lead sponsor
- Emma Marie Caroline SlackUniversity, hospital or other
- Collaborators
- University Children's Hospital
- Study start
- 30 Nov 2021 (actual)
- Primary completion
- 27 Feb 2024 (actual)
- Study completion
- 27 Feb 2024 (actual)
- First posted
- 15 Apr 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- Up to 18 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- 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.
Key inclusion criteria (1 listed)
- Children or siblings of children that have been diagnosed with one of the following diseases: any type of UCD, PA or MMA
Key exclusion criteria (3 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Contribution of micriobiota to disease severity
Time frame: 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
1 secondary outcome
Disease aggravating microbiota (microbiota target)
Time frame: 6 months
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 1 Mar 2024.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism and Propionic Aciduria, run by Emma Marie Caroline Slack at 1 site in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 1 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Contribution of micriobiota to disease severity (time frame: 6 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 1 Mar 2024.