Metabolites in Blood and Breath in Metabolic Conditions
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Observational Study.
- Who it may be relevant to
- Registry conditions: Inborn Errors of Metabolism, Epilepsy (Treatment Refractory). Basic parameters: from 4 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Center list to be confirmed — check the primary protocol.
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Measurement of Metabolites in the Breath and Blood in Patients With Altered Metabolism and Healthy Individuals
Overview
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.
Interventions
- Other Observational Study
no intervention
Primary outcome measures
- Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants. [Time frame: 2 hours to 2 weeks]
Secondary outcome measures (4)
- Correlation of metabolite concentrations in different matrices [Time frame: 2 hours to 2 weeks]
- Participant self-report questionnaire on a 4-point Likert scale on the burden of each sampling method [Time frame: 2 hours to 2 weeks]
- 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: 2 hours to 2 weeks]
- Untargeted SESI-based mass spectrometry analysis of exhaled breath captured in a bag [Time frame: 2 hours]
Eligibility criteria
Inclusion criteria
- 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
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Other
Study locations
Center list to be confirmed — check the primary protocol.
Identifiers
NCT: NCT07704606 · 2026-00730