NCT06337864

Effect of Large Neutral Amino Acids in Adults With Classical Phenylketonuria

Safety and Efficacy of Treatment With Large Neutral Amino Acids in Patients With Classical Phenylketonuria

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 30 (estimated)
• Sponsor: Rigshospitalet, Denmark · Academic / Other
• Sex: All
• Age: 18 Years – 50 Years
• Healthy volunteers: Accepted

Summary

The overall aim of this study is to evaluate LNAA treatment as a potential alternative to conventional dietary treatment for PKU. This study investigates the effects of LNAA treatment compared to the classic dietary treatment on cerebral dopamine synthesis in patients with classic PKU. We will assess LNAAs effectiveness on neurotransmitter synthesis, cognitive function, mental health, and safety, compared to the standard diet.

Detailed description

Standard treatment for Phenylketonuria (PKU) involves a lifelong, phenylalanine-restricted diet. Strict adherence to the diet is crucial, but often challenging. Large neutral amino acid (LNAA) supplementation is a potential alternative therapeutic approach for PKU management. The proposed mechanism involves competitive inhibition of phenylalanine (Phe) transport across the blood-brain barrier by high-dose LNAA, leading to reduced brain Phe levels. However, further investigation is needed to validate its efficacy and safety for PKU management. A randomized, open-label, crossover trial will be conducted to assess the safety and efficacy of LNAA supplementation in PKU patients. After completion of the crossover study, participants will have the option to participate in an open-label extension study aimed at evaluating the long-term safety and efficacy of LNAA. A healthy control group will be recruited to obtain baseline outcome measures. This project is expected to provide much-needed insights into the potential of LNAA in PKU management. The study also aims to gain a deeper understanding of the underlying pathophysiology of the disease. Finally, this work could lead to more personalized management strategies for PKU patients.

Conditions

• Brain Diseases
• Brain Diseases, Metabolic
• Brain Diseases, Metabolic, Inborn
• Genetic Diseases, Inborn
• Metabolism, Inborn Errors
• Amino Acid Metabolism, Inborn Errors
• Metabolic Disease
• Phenylketonurias

Interventions

Type	Name	Description
OTHER	PreKUnil® LNAA Medical Food for PKU	PreKUnil® LNAA Medical Food for PKU is a commercially available active LNAA treatment product for PKU.

Timeline

• Start date: 2024-11-01
• Primary completion: 2026-09-01
• Completion: 2026-09-30
• First posted: 2024-03-29
• Last updated: 2025-04-06

Locations

2 sites across 1 country: Denmark