Metabolites in Blood and Breath in Metabolic Conditions
Starting soon
Conditions studied: Inborn Errors of Metabolism, Epilepsy (Treatment Refractory)
In brief
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.
Key facts
- Study ID
- NCT07704606
- Run by
- University Children's Hospital, Zurich
- People needed
- 100
- Starts
- 2026-10-01
- Expected to finish
- 2037-10-01
- Last updated by the study team
- 2026-07-15
Who can join
Age: 4 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- 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
You may not qualify if…
- 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.
Full record on ClinicalTrials.gov
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