Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 发起方
- 入组人数
- 15
- 试验地点
- 2
- 主要终点
- Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.
研究概览
简要总结
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation.
详细描述
PKU, phenylketonuria, is a rare, inherited metabolic disorder that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life.
The conversion of phenylalanine, phe, to tyrosine is defect, phe accumulates, leading to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is a co-enzym for the conversion of phe to tyrosine. It is known that BH4 can lower phe in some patients with milder forms of PKU.
The main purpose is to test whether treatment with oral BH4 can replace the protein restrictive diet in patients with mild PKU caused by the frequent mutation Y414C in the phenylalanine hydroxylase gene.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 8 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent -
排除标准
- •Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy
结局指标
主要结局
Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.
次要结局
未报告次要终点