Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
研究概览
简要总结
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural protein), and supplementation with a protein substitute (a mixture of amino acids free from phenylalanine, also containing micronutrients and vitamins) and special low-protein foods, to meet the patient's energy requirements. When diet and treatment is relaxed after childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition, depending on the compliance with treatment and the intake of amino acid supplements.
In this study, nutrition status of patients with PKU and hyperphenylalaninemia is systematically assessed under ongoing current treatment, in relation to Phe-tolerance, compliance with treatment, and psychosocial issues.
Study participants do not undergo any specific therapeutic or diagnostic intervention.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Macronutrient and micronutrient intake, calculated from a nutrition protocol (four consecutive days)
时间窗: assessed during 4 consecutive days max. within 1 month after a regular consultation in the outpatient clinic
Assessed nutrients: Macronutrients: protein, fat, carbohydrates in g/kg/d Daily phenylalanine and tyrosine intake Micronutrients and minerals: Calcium, magnesium, iron, zinc, selenium Vitamins: D, B12, B6, C, folic acid
次要结局
- body weight (kg)(determined at a routine visit at the outpatient clinic, on average once every 6 - 12 months)
- Plasma amino acid profile(determined at a routine visit at the outpatient clinic, on average 1x per year)
- Concentrations of micronutrients, minerals and vitamins(determined at a routine visit at the outpatient clinic, on average 1x per year)
- Phenylalanine level (umol/l)(assessed at the end of the four-day nutrition protocol (see primary outcome))