A consortium focused on disorders causing high levels of phenylalanine in the blood.
Hyperphenylalaninemia Disorders Consortium of the Rare Disease Clinical Research Network
This study is bringing together experts to learn more about hyperphenylalaninemia, a condition found in newborns, by looking at its causes and how it affects people over time, especially regarding diet and mental health, so we can find better ways to help those living with it.
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-10701011 on NIH RePORTER |
What this research studies
This research aims to establish a collaborative network dedicated to studying hyperphenylalaninemia, a condition often identified through newborn screening. It investigates the causes of this condition, including deficiencies in phenylalanine hydroxylase and biopterin synthesis, as well as a newly identified protein deficiency. The research will involve longitudinal studies to understand the long-term effects of dietary management and the psychological impacts of the condition on adolescents and adults. By gathering data from multiple centers, the consortium seeks to improve understanding and treatment options for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with hyperphenylalaninemia, particularly those with phenylketonuria or related metabolic disorders.
Not a fit: Patients without a diagnosis of hyperphenylalaninemia or those who do not have metabolic disorders related to elevated phenylalanine levels may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better management strategies and improved quality of life for patients with hyperphenylalaninemia.
How similar studies have performed: Previous research has shown success in managing phenylketonuria through dietary interventions, but this consortium aims to explore uncharted areas in the long-term effects and management of related conditions.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Harding, Cary O. — Oregon Health & Science University
- Study coordinator: Harding, Cary O.
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.