Investigating how elevated phenylalanine affects brain and cognitive function in adults who carry the PKU gene.
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-11057253 · Data updated 2026-11-12
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.
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 | 2025 |
| Award (this year) | $255,343 |
| NIH project number | 1R21HD115129-01A1 |
| Project ID | NIH-11057253 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are adults aged 21 and older who are genetically confirmed heterozygous carriers of the PKU gene.
✕Less likely to help
Patients who do not carry the PKU gene or those with a confirmed diagnosis of PKU may not benefit from this research.
What this research studies
This research focuses on understanding the effects of elevated levels of phenylalanine (Phe) on metabolic, cognitive, and neural functioning in adults who are heterozygous for phenylketonuria (PKU). The study will involve a double-blind crossover design, where participants will consume Phe and undergo assessments to measure changes in cognitive abilities and brain function. By comparing genetically-confirmed PKU carriers with non-carriers, the research aims to uncover potential cognitive deficits associated with Phe elevation. This investigation is crucial as it addresses a gap in knowledge regarding the impact of Phe on individuals who carry the PKU gene but do not have the condition.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management strategies for cognitive and neurological health in PKU carriers.
How similar studies have gone: While research on PKU has been extensive, the specific focus on heterozygous carriers and their cognitive function is relatively novel and has not been extensively tested.
Where this research is happening
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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.
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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.
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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.
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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.
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Phenylalanine and brain function in PKU carriers and non-carriers
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.
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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.
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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.
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.