An Open-label, Explorative, Post Launch, Multicenter, Multi-country Intervention Study of PKU Synergy (an Amino-acid Mixture) to Evaluate Change in Nutrient Intake in PKU Subjects With an Increased Phe-tolerance/Intake
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 13
- 试验地点
- 3
- 主要终点
- Product acceptability
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). Patients with mild PKU or partly responsive to the drug synthetic tetrahydrobiopterin (BH4) (Kuvan®) can change to a more relaxed diet. However due to difficulty to adapt their diet, these patients are at risk of an imbalanced nutritional status and an insufficient intake of specific micronutrients, essential amino acids and DHA (Docosahexaenoic acid). The study product is designed to improve the nutritional status of the patients.
The study investigates if the nutritional status is indeed improved following 24 week use of the study product, and also the study aims to evaluate product acceptability.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •PKU subjects identified by newborn screening and started low-Phe diet before 3 months of age
- •PKU subjects (with or without current AAM use) with an increased Phe-tolerance/intake due to:
- •Mild PKU phenotype
- •BH4 treatment
- •If treated with BH4, PKU subjects should be on a stable BH4 treatment for at least 26 consecutive weeks up to start test product intake
- •Age≥12 years
- •If subjects (irrespective whether BH4 users or mild PKU) use amino-acid mixture(s; AAM), then a maximum of 25 Protein Equivalents (PE) derived from the AAM per day applies and usage on a daily basis for at least 26 consecutive weeks up to Visit 1
- •If subjects (irrespective whether BH4 users or mild PKU) use AAMs they should be capable and willing to substitute their current AAM(s; maximum of 25 PE per day) with one portion of the test product per day
- •If subjects (irrespective whether BH4 users or mild PKU) use omega-3, antioxidant, and/or vitamin supplements, to stop usage of the supplements and be able and willing to substitute with the test product
- •Willing and able to comply with study procedures
- •Willing and able to provide informed consent (and assent in case of minors if required by local law/regulations)
- •For women of childbearing potential: not to have the intention to become pregnant during the study
排除标准
- •For women: Currently pregnant or lactating
- •Current or prior use of the test product within six weeks prior to entry into the study
- •Concurrent conditions (including renal failure and severe hepatic failure) and medication that could interfere with participation, outcome parameters or safety (as determined by Investigator)
- •Psychotropic medication (i.e. medication affecting the nervous system) and inotropic medication
- •Any condition creating high risk of poor compliance with study
- •Participation in any other studies involving investigational or marketed products concomitantly or within six weeks prior to entry into the study. Except for studies related to Kuvan® (synthetic tetrahydrobiopterin (BH4)) without diagnostic, therapeutic or experimental intervention.
结局指标
主要结局
Product acceptability
时间窗: 24 weeks
Product acceptability questionnaire \[category/score\] \[0-10\] and \[0-5\]
Nutrient intake
时间窗: 24 weeks
Change in nutrient intake after 24 weeks by analysis of 3 day diet diary. Nutrients (energy, micronutrients, essential amino acids and DHA) in \[(m)/(micro)gram/day\] or \[mg/day or mg/kg/day\]
次要结局
- Anthropometrics: weight(24 weeks)
- Blood chemistry: nutritional status(24 weeks)
- Anthropometrics: BMI(24 weeks)
- Compliance(24 weeks)
- Anthropometrics: height(24 weeks)
- Phenylalanine (Phe) levels(24 weeks)