Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
试验速览
- 阶段
- 2 期
- 状态
- 已完成
- 入组人数
- 21
- 试验地点
- 1
- 主要终点
- Percent Change in Blood Phenylalanine
研究概览
简要总结
The investigators will investigate the effect of blood phenylalanine on Kuvan responsiveness in the same patients with PKU when their blood phenylalanine concentrations are altered by diet.
Lowering blood phenylalanine concentrations in Kuvan non-responsive patients with PKU will increase the frequency of Kuvan responsiveness.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Sequential
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •all patients with a diagnosis of phenylketonuria
- •patients who are over the age of 4 years,
- •patients with a fasting blood phenylalanine ≥600µmol/l
排除标准
- •female patients who are pregnant or attempting to become pregnant
- •children under four years of age
- •Concurrent disease of condition that would interfere with study participation or safety such as history of neurological compromise or major medical, psychiatric or learning disorder unrelated to PKU
- •Any condition that, in the view of the Investigators, places subject at high risk of poor treatment compliance or of not completing the study
- •Use of L-Dopa, methotrexate, or other drugs that may inhibit folate metabolism
研究组 & 干预措施
Acute 24 Hour Component
Participants will receive one dose of Kuvan 20 mg/kg on Day 1 and assessed for Acute 24 hour Kuvan response.
干预措施: Kuvan (Drug)
Phase 1 Group
After completion of acute 24 hour component, participants can enroll in Phase 1 and will receive Kuvan 20 mg/kg by mouth once daily for 28 consecutive days
干预措施: Kuvan (Drug)
Phase 2 Group
Participants in Phase 1 that was not responsive will continue on to the Phase 2 of the study. Positive response is defined as a decrease of blood phenylalanine of 30% or greater from baseline taken from morning blood serum. The Phase 2 component of the study will be a 2 week period of dietary restriction.
干预措施: Diet (Other)
Phase 3 Group
Participants in Phase 2 that achieves a fasting blood phenylalanine of less than 600 umol/l after 2 week dietary restriction will be retreated with Kuvan 20 mg/kg by mouth once daily for a period of 28 consecutive days.
干预措施: Kuvan (Drug)
结局指标
主要结局
Percent Change in Blood Phenylalanine
时间窗: Baseline to Day 1 of the Acute Phase, Baseline to Day 28 of Phase 1, Baseline to Day 28 of Phase 3
Percent change in phenylalanine in (uM) on Kuvan Response evaluated via fasting morning blood serum. A decrease of 30% or greater indicates positive response on Kuvan.
次要结局
未报告次要终点