NCT07194993NARecruiting

PKU Protein Requirements

Emory University

Start Date

2/16/2026

Completion Date

8/1/2027

Summary

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.

Detailed Description

Current phenylketonuria (PKU) protein guidelines are based on outdated methods and do not account for differences in genetics or how much medical formula an individual consumes.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.

Eligibility Criteria

Age Range: 18 years to No maximum

Inclusion Criteria: * 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 Exclusion Criteria: * 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)

Interventions

OTHER

Nonradioactive stable oral isotope

OTHER

Test diet

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Conditions

PKU

Locations

Emory University Hospital

Atlanta, Georgia 30322

United States