PANDA: A Cross-sectional Study to Measure Blood Amino Acid Levels in PKU Children on a Protein Substitute
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 37
- 试验地点
- 2
- 主要终点
- Amino acid levels in blood
研究概览
简要总结
Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.
详细描述
The exploratory study's main objective is to measure blood amino acid levels and to gain quantitative insights in children with PKU on a protein substitute with respect to evaluation of nutritional intake.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 2 Years 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Both PKU and Non-PKU comparison subjects:
- •Age ≥ 2 and ≤ 12 years
- •Willing and able to provide informed consent by parents or legal representatives (and assent if required by local law/regulations)
- •One subject per family
- •PKU subjects specific inclusion criteria:
- •PKU subjects identified by newborn screening and started low Phe diet before 1 month age
- •Usage of at least two Phe-free protein substitutes on a daily basis for at least 26 consecutive weeks up to Visit 1
- •Average Phe-level ≤360 µmol/L based on at least two blood Phe values from the past 12 months up to Visit 1
- •Non-PKU comparison subjects specific inclusion criteria:
- •Same age (±3 years) and sex as an included PKU subject
排除标准
- •Both PKU and Non-PKU comparison subjects:
- •Current psychiatric disorders
- •Severe hepatic, thyroid or renal dysfunction
- •Acute illnesses like fever, flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)
- •Serious conditions (e.g. cancer, hydrocephalus, fatal heart disease)
- •Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study
- •PKU specific exclusion criteria:
- •Use of BH4, or drugs that may interfere with main outcomes
- •Non-PKU comparison subjects specific exclusion criteria:
- •PKU diagnosis or any other diagnosed disorder of amino or organic acid metabolism
结局指标
主要结局
Amino acid levels in blood
时间窗: day 1
Measuring amino acid levels in blood \[μmol/L\]
Nutrient Intake
时间窗: day 1 - day 3
Measured by three-day diet diary. Nutrients in \[mg/day\]
次要结局
未报告次要终点