Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype
试验速览
- 阶段
- 1 期
- 状态
- 进行中（未招募）
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- • Serum phenylealanine level in patients after given tetrahydrobiopterin
研究概览
简要总结
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
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
- Diagnostic
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l
排除标准
- •if phenylalanine was less than 400 μmol/l
研究组 & 干预措施
GROUP 1
Sapropterin Dihydrochloride
干预措施: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) (Drug)
结局指标
主要结局
• Serum phenylealanine level in patients after given tetrahydrobiopterin
时间窗: Blood samples were taken at Hour = 0, 8, 16, 24 and 48
Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was \< 400 μmol/l. BH4 20 mg/kg was administered for 48 hours . Blood samples were taken at Hour = 0, 8, 16, 24 and 48 . Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.
次要结局
未报告次要终点
研究者
Mahmoud Gadelkarim Mohamed
principal investigator
Sohag University