Tracking health outcomes in individuals with high blood phenylalanine levels
Longitudinal Natural History of Disorders Associated with Hyperphenylalaninemia
This study is looking to gather health information from people of all ages who have high blood phenylalanine levels due to certain genetic conditions, to see how these levels affect their brain health, thinking skills, and overall quality of life over time.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-10701014 on NIH RePORTER |
What this research studies
This research aims to collect and analyze health data over time from individuals with conditions that cause elevated blood phenylalanine levels, known as hyperphenylalaninemia. Participants of all ages with specific genetic deficiencies related to this condition will be monitored for various health outcomes, including neurological, cognitive, and quality-of-life measures. The study will explore how these outcomes relate to blood phenylalanine levels and other biomarkers, providing a comprehensive understanding of the condition's impact throughout a person's life.
Who could benefit from this research
Good fit: Ideal candidates include individuals of any age with molecularly confirmed phenylalanine hydroxylase deficiency or related metabolic disorders.
Not a fit: Patients without a diagnosis of hyperphenylalaninemia or related metabolic disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved therapies and management strategies for individuals affected by hyperphenylalaninemia.
How similar studies have performed: Previous research has shown success in longitudinal studies of metabolic disorders, indicating that this approach is promising for understanding hyperphenylalaninemia.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Arnold, Georgianne L — Oregon Health & Science University
- Study coordinator: Arnold, Georgianne L
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.