Inborn Errors of MetabolismNCT07704606
Metabolites in Blood and Breath in Metabolic Conditions
An observational study of Inborn Errors of Metabolism and Epilepsy (Treatment Refractory), run by University Children's Hospital, Zurich.
Trial summary
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood samples. Read more about this study
- Who is it for?
- Ages 4 years and olderHealthy volunteers can take part
- Conditions the study is for
- Inborn Errors of Metabolism, Epilepsy (Treatment Refractory)
- What is being tested?
- Observational Study
- How many people
- 100 participants
- Where
- No sites listed yet
- Study dates
- 1 Oct 2026to 1 Oct 2037
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 4 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Patients who are routinely cared for at the study site will be invited to participate. Healthy volunteers will be recruited through communication with healthy family members accompanying patients to hospital visits and the general population through flyers.
Who may be able to join
- Patients aged 4-20 years old with refractory epilepsy on a ketogenic diet, or
- Patients aged 4 years old and above with a confirmed diagnosis of urea cycle disorders, organic acidurias, amino acidopathies and fatty acid oxidation defects, or
- healthy adults and
- informed consent
Who cannot join
- Physical findings at screening that would compromise safety of the participant or quality of study data. Examples include presentation of fever, pulmonary complications, presence of disease comorbidities that might interfere with study result and inability to comply with study procedures.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Measurement of Metabolites in the Breath and Blood in Patients With Altered Metabolism and Healthy Individuals
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood samples. Repeated venipuncture for blood collection is invasive, burdensome, and resource-intensive. As an alternative, capillary blood sampling can provide some relief for the measurement of a limited number of metabolites. Nevertheless, the frequent finger pricks required to obtain capillary blood samples can still be uncomfortable for patients. Therefore, patients could benefit if non-invasive breath measurements were to replace the currently invasive biochemical monitoring methods in the future.
In this study, the usability of metabolite measurements across matrices (venous blood, capillary blood, breath captured by a handheld sensor and breath in a collection bag) in IEM patients, individuals prescribed special health-related diets, and healthy volunteers will be investigated. The usability of a handheld breath sensor for remote monitoring of patients will also be tested. Lastly, exploratory investigations will be performed to identify new disease biomarkers in breath.
- Being tested
- Observational Study
- Medical subject headings
- Metabolism, Inborn Errors, Epilepsy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Observational StudyOther
no intervention
| Study group | Role | What they receive |
|---|---|---|
| Patients or healthy adult volunteers | Not described Receives: Other: Observational Study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
- Concentration of beta-hydroxybutyrate in venous and capillary blood
- Concentration of acetone in exhaled breath
- Concentration of ammonia in venous blood and exhaled breath
- Concentration of amino acids (alanine, arginine, asparagine, aspartic acid, citrulline, cysteine, glutamine, glutamic acid, glycine, histidine, isoleucine, leucine, lysine, methionine, ornithine, phenylalanine, proline, serine, threonine, tryptophan, tyrosine and valine) in venous blood, capillary blood and exhaled breath.
Measured: Baseline
Secondary outcomes (4)
Correlation of metabolite concentrations in different matrices
- Correlation between concentration of beta-hydroxybutyrate in venous and capillary blood and concentration of acetone in exhaled breath captured directly by a handheld device with a chemiresistor sensor and breath captured in a collection bag and measured by mass spectrometry
- Correlation between concentration of ammonia in venous blood and exhaled breath captured directly by a handheld device with a chemiresistor sen
- Correlation between concentration of amino acids in venous and capillary blood and in exhaled breath captured directly by a handheld device with a chemiresistor sensor and breath captured in a collection bag and measured by mass spectrometry
Measured: Baseline
Participant self-report questionnaire on a 4-point Likert scale on the burden of each sampling method
Likert scale: 1, Strongly Agree. 2, Agree. 3, Disagree. 4, Strongly Disagree. The lower the score, the lower the burden of sampling method.
Measured: Baseline
Participant self-report questionnaire on a 4-point Likert scale on the usability of the handheld breath sensor for remote measurements of metabolites
Likert scale: 1, Strongly Agree. 2, Agree. 3, Disagree. 4, Strongly Disagree. The lower the score, the higher the acceptance of using the handheld breath sensor.
Measured: Baseline
Untargeted SESI-based mass spectrometry analysis of exhaled breath captured in a bag
abundance (parts per million) of all detectable and identifiable metabolites in exhaled breath
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2026
- Study start1 Oct 2026 (estimated)
- Primary completion1 Oct 2036 (estimated)
- Study completion1 Oct 2037 (estimated)
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
- Other
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Children's Hospital, Zurich
- Sponsor type
- University, hospital or other
- Collaborators
- ETH Zurich (Switzerland)
- Responsible party
- Principal investigator, Johannes Haeberle, University Children's Hospital, Zurich
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07704606
- Sponsor's protocol ID
- 2026-00730
- Status last verified
- Aug 2026
- First submitted
- 2 Jul 2026
- Last updated
- 12 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 12 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Measurement of Metabolites in the Breath and Blood in Patients With Altered Metabolism and Healthy Individuals
- ClinicalTrials.gov ID
- NCT07704606
- Acronym / sponsor ID
- 2026-00730
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Children's Hospital, ZurichUniversity, hospital or other
- Collaborators
- ETH Zurich (Switzerland)
- Study start
- 1 Oct 2026 (estimated)
- Primary completion
- 1 Oct 2036 (estimated)
- Study completion
- 1 Oct 2037 (estimated)
- First posted
- 15 Jul 2026 (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.
In patients with inborn errors of metabolism (IEM) and in those requiring a ketogenic diet for the treatment of medical conditions, relevant biochemical analytes are routinely and regularly measured in venous or capillary blood samples. Repeated venipuncture for blood collection is invasive, burdensome, and resource-intensive. As an alternative, capillary blood sampling can provide some relief for the measurement of a limited number of metabolites. Nevertheless, the frequent finger pricks required to obtain capillary blood samples can still be uncomfortable for patients. Therefore, patients could benefit if non-invasive breath measurements were to replace the currently invasive biochemical monitoring methods in the future.
In this study, the usability of metabolite measurements across matrices (venous blood, capillary blood, breath captured by a handheld sensor and breath in a collection bag) in IEM patients, individuals prescribed special health-related diets, and healthy volunteers will be investigated. The usability of a handheld breath sensor for remote monitoring of patients will also be tested. Lastly, exploratory investigations will be performed to identify new disease biomarkers in breath.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients or healthy adult volunteers | – | Other: Observational Study |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients who are routinely cared for at the study site will be invited to participate. Healthy volunteers will be recruited through communication with healthy family members accompanying patients to hospital visits and the general population through flyers.
Key inclusion criteria (4 listed)
- Patients aged 4-20 years old with refractory epilepsy on a ketogenic diet, or
- Patients aged 4 years old and above with a confirmed diagnosis of urea cycle disorders, organic acidurias, amino acidopathies and fatty acid oxidation defects, or
- healthy adults and
- informed consent
Key exclusion criteria (1 listed)
- Physical findings at screening that would compromise safety of the participant or quality of study data. Examples include presentation of fever, pulmonary complications, presence of disease comorbidities that might interfere with study result and inability to comply with study procedures.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Observational Studyno intervention | Other | Patients or healthy adult volunteers |
Primary outcome
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
Time frame: Baseline
1. Concentration of beta-hydroxybutyrate in venous and capillary blood 2. Concentration of acetone in exhaled breath 3. Concentration of ammonia in venous blood and exhaled breath 4. Concentration of amino acids (alanine, arginine, asparagine, aspartic acid, citrulline, cysteine, glutamine, glutamic acid, glycine, histidine, isoleucine, leucine, lysine, methionine, ornithine, phenylalanine, proline, serine, threonine, tryptophan, tyrosine and valine) in venous blood, capillary blood and exhaled breath.
4 secondary outcomes
Correlation of metabolite concentrations in different matrices
Time frame: Baseline
Participant self-report questionnaire on a 4-point Likert scale on the burden of each sampling method
Time frame: Baseline
Participant self-report questionnaire on a 4-point Likert scale on the usability of the handheld breath sensor for remote measurements of metabolites
Time frame: Baseline
Untargeted SESI-based mass spectrometry analysis of exhaled breath captured in a bag
Time frame: Baseline
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Aug 2026.
- Individual participant dataSharing planned: Undecided
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Inborn Errors of Metabolism and Epilepsy (Treatment Refractory), run by University Children's Hospital, Zurich.
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 4 inclusion and 1 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: opening soon, as of the sponsor's last update on 12 Aug 2026. Status can change between updates, so confirm with the study contact before making plans.
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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Johannes Häberle (+41 44 249 59 88, Johannes.Haeberle@kispi.uzh.ch), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants. (time frame: Baseline). 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 12 Aug 2026.