Scientific Studies
As part of our mission at the NPKUA, we strive to keep the community informed with the latest advances in PKU research. We are committed to sharing recent scientific abstracts, posters and studies relevant to the PKU community. See the latest posters shared at our 2025 NPKUA Scientific Conference.
Clinic Connections: National PKU Alliance Outreach Initiative
Data from studies in PKU mouse models demonstrate the potential of genome editing technology (RNA Gene Writers) to provide a one-time curative treatment for patients with PKU who carry at least one copy of the R408W mutation in the PAH gene
Development of an Overdue Outreach Program to Improve Adherence to Phenylketonuria Management
JNT-517, a First-in-class SLC6A19 Inhibitor, Reduced Plasma Phenylalanine Levels in Subjects With Phenylketonuria in a Phase 1/2 Study
Novel Oral Gut-Restricted Enzyme Therapy for PKU – Preclinical Proof of Concept
PKU NowTM: A Point-of-Care Device for the Measurement of L-Phenylalanine from a Finger or Heel-stick Blood Sample
A Prolonged-Release Formula Has a Positive Impact on Morning Phenylalanine and Tyrosine Fluctuations in Patients with Classical Phenylketonuria (PKU)
Specialized Provider of Medical Formula Can Improve Dietary Adherence in Inborn Errors of Metabolism
Update from PHEFREE (Phenylalanine Families and Researchers Exploring Evidence): The rare disease research consortium for hyperphenylalaninemia
