Phenylalanine and brain function in PKU carriers and non-carriers
Official title: The Impact of Phenylalanine Elevations on Metabolic, Cognitive, and Neural Functioning in Adults Heterozygous for Phenylketonuria (PKU)
Funded at University of Missouri-Columbia · NIH-11326741 · Data updated 2026-11-12
We’re exploring how a single elevated nutrient (phenylalanine) affects thinking and brain function in adults who carry a PKU gene variant compared with those who don’t.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Missouri-Columbia NIH-funded |
| Lab location | 1 site (Columbia, United States) |
| Project start | May 1, 2025 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $199,884 |
| NIH project number | 5R21HD115129-02 |
| Project ID | NIH-11326741 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults 21+ who are genetically confirmed PKU carriers or non-carriers and willing to participate in a crossover study.
✕Less likely to help
Individuals who do not fit the genetic criteria or are unwilling to undergo the ingestion protocol may not benefit.
What this research studies
This study recruits adults 21 and older who are genetically confirmed as PKU carriers or non-carriers. It uses a double-blind crossover design to examine how acutely increasing phenylalanine affects metabolism, brain activity, and cognitive tasks. Participants undergo controlled phenylalanine ingestions, with metabolic, neurophysiologic, and cognitive measurements taken across sessions. The goal is to understand whether PKU carriers experience short-term changes in attention, processing speed, and executive function related to phenylalanine levels.
Why it matters
Potential benefit: If successful, the findings could inform dietary guidance and monitoring for PKU carriers to protect cognitive and brain health.
How similar studies have gone: Prior research shows cognitive effects of high phenylalanine in PKU patients; this study extends knowledge to carriers.
Where this research is happening
-
University of Missouri-Columbia
Columbia, United States Active
Researchers
- Principal investigator: Christ, Shawn — University of Missouri-Columbia
- Study coordinator: Christ, Shawn
Related research
Other NIH-funded projects on the same topics.
-
LNP-based adenine base editing for PKU and urea cycle disorders
A front-line, patient-focused research project aims to develop safe gene-editing therapies that could lessen or correct the biochemical problems in PKU and related urea cycle disorders.
-
PKU: a new gene-editing treatment for a common PAH mutation
A new therapy using lipid nanoparticles to correct a common PKU mutation could reduce the need for strict diets and dangerous enzyme injections.
-
A new gene-editing approach to treat phenylketonuria (PKU)
A medical research project is testing a gene-editing strategy using AAV-delivered CRISPR tools to correct PAH gene defects in PKU patients.
-
Gene-editing treatment for phenylketonuria caused by the P281L PAH mutation
A lipid nanoparticle-delivered adenine base editor to correct the P281L PAH mutation in people with phenylketonuria.
-
Using gene editing to treat phenylketonuria
This study is exploring a new way to use gene editing to help people with phenylketonuria (PKU) by fixing the genetic issues that cause the condition, aiming to offer a better treatment than the current strict diets and medications.
-
Investigating how elevated phenylalanine affects brain and cognitive function in adults who carry the PKU gene.
This study is looking at how higher levels of phenylalanine (Phe) might affect thinking and brain function in adults who carry the PKU gene but don’t have the condition, to help us understand if they might face any challenges related to Phe.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.