A Novel Approach Integrating Non-invasive Skin Tape-stripping to Evaluate and Monitor Patients With Phenylketonuria (PKU)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 86
- 试验地点
- 1
- 主要终点
- Control Metabolomic Profile (skin)
研究概览
简要总结
PURPOSE OF STUDY: To determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time.
详细描述
This study will determine if a non-invasive skin stripping technique can be used to detect individuals with phenylalanine abnormalities, and to monitor dietary and/or drug effects over time. To do this 50 children and adults with phenylalanine abnormalities and up to 50 unaffected controls will be recruited to this study. The 50 affected individuals will have their metabolomic profile analyzed from up to 3 skin-stripping samples over time and compared to their serum amino acid profile in both dried blood spots and a typical blood sample. The unaffected controls will provide one skin-stripping sample. Clinical data regarding compliance with dietary therapy and other medications will be collected to determine other effects on the metabolome.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •A clinical diagnosis of PKU that is confirmed by elevated serum phenylalanine.
- •Subject or the subject's legal authorized representative has given written informed consent to participate in the study.
排除标准
- •Not applicable.
结局指标
主要结局
Control Metabolomic Profile (skin)
时间窗: 5 years
The establishment of normative data for the skin metabolome will provide a baseline for assessing changes in the skin metabolome that occur during development and with disease. By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.
PKU Metabolomic Profile (skin)
时间窗: 5 years
By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.
Metabolomic Profile Change
时间窗: 5 years
Determine if the metabolomic profile changes over time in patients with PKU. By exhaustive extraction of the adhesive tapes with organic solvents, the investigators will analyze the metabolome of the stratum corneum with developed targeted methods for amino acids. The analysis will be performed using ultra high performance liquid chromatography - quadrupole time of flight mass spectrometry (UPLCQTOF-MS) to identify biochemical changes in the tape-stripped skin metabolome. With the comparative intensity/concentration results of identified metabolites, a subsequent metabolic network reconstruction will be carried out to reveal the underlying mechanism perturbed in PKU and metabolic response to diet or therapeutic interventions.
次要结局
未报告次要终点