# Longitudinal Natural History of Disorders Associated with Hyperphenylalaninemia

> **NIH NIH U54** · OREGON HEALTH & SCIENCE UNIVERSITY · 2020 · $970,549

## Abstract

4. PROJECT SUMMARY – PROJECT 1
The objective of Clinical Project #1 is to develop a comprehensive longitudinal natural history study to capture
outcomes data throughout the lifespan on individuals with inborn errors of metabolism causing
hyperphenylalaninemia (elevated blood phenylalanine (Phe)). Eligible subjects will include individuals of all
ages of either gender with molecularly proven phenylalanine hydroxylase (PAH) deficiency, a deficiency of
biopterin synthesis or recycling (including GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase (PTPS),
dihydropteridine reductase (DHPR) or pterin-4a-carbinolamine dehydratase (PCD) deficiencies), or deficiency
of the PAH co-chaperone protein DNAJC12. This project will comprehensively and longitudinally evaluate the
health, neurologic, cognitive, neuropsychiatric, patient-reported, and quality-of-life outcomes in a large cohort
of individuals with these inborn errors of metabolism and explore the interrelationships between outcome and
blood Phe levels, or other biomarkers. The results of this study will allow refinement and improvement of
current and future therapies for the most common inborn error of metabolism and the rarer conditions
associated with hyperphenylalaninemia.

## Key facts

- **NIH application ID:** 10019406
- **Project number:** 5U54HD100982-02
- **Recipient organization:** OREGON HEALTH & SCIENCE UNIVERSITY
- **Principal Investigator:** GEORGIANNE L ARNOLD
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $970,549
- **Award type:** 5
- **Project period:** 2019-09-16 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10019406

## Citation

> US National Institutes of Health, RePORTER application 10019406, Longitudinal Natural History of Disorders Associated with Hyperphenylalaninemia (5U54HD100982-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10019406. Licensed CC0.

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