Measuring how the body processes phenylalanine in certain metabolic disorders

Quantitative Measurement of Phenylalanine Metabolism in Sapropterin-Responsive Hyperphenylalaninemia

NIH-funded research Oregon Health & Science University · NIH-10701016

This study is looking at new, gentle ways to see how your body processes phenylalanine, especially if you have PAH deficiency, by testing breath samples and blood levels after a special diet, to help improve future treatments.

Quick facts

Grant typeNIH-funded research
Study typeNIH-funded research
Funding institutionOregon Health & Science University NIH-funded
Lab location1 site (Portland, United States)
Project IDNIH-10701016 on NIH RePORTER

What this research studies

This research focuses on developing noninvasive techniques to measure how the body metabolizes phenylalanine, particularly in individuals with phenylalanine hydroxylase (PAH) deficiency. The study will evaluate two methods: analyzing breath samples after consuming a specific form of phenylalanine and measuring blood levels of phenylalanine and tyrosine after a fasting challenge. These methods aim to provide reliable data on phenylalanine metabolism without being affected by dietary intake. The findings will help prepare for future clinical trials involving gene therapy for PAH deficiency.

Who could benefit from this research

Good fit: Ideal candidates for this research are adults with full or partial phenylalanine hydroxylase deficiency.

Not a fit: Patients without phenylalanine hydroxylase deficiency or those who do not meet the age requirement may not benefit from this research.

Why it matters

Potential benefit: If successful, this research could lead to improved monitoring and treatment options for patients with phenylalanine metabolism disorders.

How similar studies have performed: Previous research has shown promise in using noninvasive methods for metabolic measurements, suggesting potential success for this approach.

Where this research is happening

Portland, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.