Measurement of Metabolites in the Breath and Blood in Patients With Altered Metabolism and Healthy Individuals
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 100
- 主要终点
- Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •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
排除标准
- •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.
研究组 & 干预措施
Patients or healthy adult volunteers
干预措施: Observational Study (Other)
结局指标
主要结局
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
时间窗: 2 hours to 2 weeks
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.
Concentration (μmol/L) of metabolites of clinical interest in venous blood, capillary blood and breath of participants.
时间窗: 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.
次要结局
- Correlation of metabolite concentrations in different matrices(2 hours to 2 weeks)
- Participant self-report questionnaire on a 4-point Likert scale on the burden of each sampling method(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(2 hours to 2 weeks)
- Untargeted SESI-based mass spectrometry analysis of exhaled breath captured in a bag(2 hours)
- Correlation of metabolite concentrations in different matrices(Baseline)
- Participant self-report questionnaire on a 4-point Likert scale on the burden of each sampling method(Baseline)
- Participant self-report questionnaire on a 4-point Likert scale on the usability of the handheld breath sensor for remote measurements of metabolites(Baseline)
- Untargeted SESI-based mass spectrometry analysis of exhaled breath captured in a bag(Baseline)
研究者
Johannes Haeberle
Prof. Dr. med
University Children's Hospital, Zurich