Defining Protein Requirements in Adults With PKU: Impact of Genotype and Medical Food Intake
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 18
- 试验地点
- 2
- 主要终点
- Change in rate of oxidation of tracer in the expired breath
研究概览
简要总结
The objective of this research is to determine the protein requirements based on genotype and medical food consumption in a sample of adults with Phenylketonuria (PKU) using the indicator amino acid oxidation (IAAO) method.
详细描述
Current phenylketonuria (PKU) protein guidelines are based on outdated methods and do not account for differences in genetics or how much medical formula an individual consumes. This research aims to determine more accurate and personalized protein requirements in adults with PKU that have different genetic changes using a safe and direct method called the indicator amino acid oxidation technique. The study will address two specific aims: Aim 1 will determine the protein requirements of adults with PKU that have different genetic changes and Aim 2 will investigate how the ratio of medical formula to protein intake from natural foods affects protein needs.
Adults with PKU will be recruited for this study, and vulnerable populations will not be included.
This study includes surveys, anthropometric measurements, body composition analysis, indirect calorimetry, diet history, collection of blood, urine, and expired breath samples, administration of study day diets and an oral stable isotope protocol.
Recruitment will be at Emory Genetics Clinic. Informed consent will be obtained with an in-person signature or by an electronic IRB approved signature. Participants will attend one preliminary visit and 7 study days. Each study day will last 8 hours. Participants will be enrolled for approximately 4-6 months.
Participants will have the option to bank plasma and urine samples for future use.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •will be males and females (50:50) 18 years and older who were diagnosed with PKU through newborn screening or diagnosis later in life, capable of providing consent, and have previously had mutation testing
排除标准
- •include concurrent illness, recent history of weight loss or acute illness during the past 6 months that could affect protein metabolism, pregnancy, lack of regular menstruation, implantable electronic devices or pacemakers, history of claustrophobia, and inability to provide consent. In addition, participants will be excluded if their genotype subgroup has already reached its predefined maximum enrollment (n=4)
研究组 & 干预措施
Adults with PKU receiving test diet and Oral stable nonradioactive isotope provision
Participants will receive amino acid tracer (Oral stable nonradioactive isotope provision) and test diet (medical food) throughout each study day, for a total of 7 study days.
干预措施: Nonradioactive stable oral isotope (Other)
Adults with PKU receiving test diet and Oral stable nonradioactive isotope provision
Participants will receive amino acid tracer (Oral stable nonradioactive isotope provision) and test diet (medical food) throughout each study day, for a total of 7 study days.
干预措施: Test diet (Other)
结局指标
主要结局
Change in rate of oxidation of tracer in the expired breath
时间窗: Baseline, post-intervention (3-8 hours post-baseline)
The rate of oxidation of tracer in the expired breath will be measured in each study day.
次要结局
- Change in Phenylalanine concentrations before and after provision of the oral isotope protocol to provide an assessment of phenylalanine and tyrosine metabolism following study day(Baseline, post-intervention (8 hours post-baseline))
- Change in Tyrosine concentrations before and after provision of the oral isotope(Baseline, post-intervention (8 hours post-baseline))
- Ratio of medical food protein to protein from foods protein to protein from foods(Throughout the study (Up to 6 months post-intervention))
- Number of participants with no adverse events related to study day diets and nonradioactive isotope tracers(End of study (Up to 6 months post-intervention))