Investigating how elevated phenylalanine affects brain and cognitive function in adults who carry the PKU gene.
The Impact of Phenylalanine Elevations on Metabolic, Cognitive, and Neural Functioning in Adults Heterozygous for Phenylketonuria (PKU)
['FUNDING_R21'] · UNIVERSITY OF MISSOURI-COLUMBIA · NIH-11057253
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
| Phase | ['FUNDING_R21'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MISSOURI-COLUMBIA (nih funded) |
| Locations | 1 site (COLUMBIA, UNITED STATES) |
| Trial ID | NIH-11057253 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research are adults aged 21 and older who are genetically confirmed heterozygous carriers of the PKU gene.
Not a fit: Patients who do not carry the PKU gene or those with a confirmed diagnosis of PKU may not benefit from this research.
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 performed: 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
COLUMBIA, UNITED STATES
- UNIVERSITY OF MISSOURI-COLUMBIA — COLUMBIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHRIST, SHAWN — UNIVERSITY OF MISSOURI-COLUMBIA
- Study coordinator: CHRIST, SHAWN
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 below.