Metabolites in Blood and Breath in Metabolic Conditions
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age4+
SponsorUniversity Children's Hospital, Zurich
About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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
Disqualifiers
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 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.
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Observational Study
Other interventionno intervention
Treatment groups
100 Participants
are divided into 1 treatment groupGroup A: Patients or healthy adult volunteers1 intervention
Trial outcomes
Primary outcomes
1
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
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.
Time frame
BaselineSecondary outcomes
1
Correlation of metabolite concentrations in different matrices
1. 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 2. Correlation between concentration of ammonia in venous blood and exhaled breath captured directly by a handheld device with a chemiresistor sen 3. 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
Time frame
Baseline2
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.
Time frame
Baseline3
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.
Time frame
Baseline4
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
Time frame
BaselineLocations
Sponsors and contacts
Click on the lead sponsor to view all of their trials.
University Children's Hospital, Zurich
Lead sponsor
ETH Zurich (Switzerland)
Collaborator
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: