Actively Recruiting

Age: 16Years +
All Genders
NCT04404530

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

Led by Emory University · Updated on 2026-01-14

45

Participants Needed

2

Research Sites

477 weeks

Total Duration

On this page

Sponsors

E

Emory University

Lead Sponsor

B

BioMarin Pharmaceutical

Collaborating Sponsor

AI-Summary

What this Trial Is About

Phenylketonuria (PKU) is an inherited metabolic disorder that impairs the metabolism of the essential amino acid phenylalanine (Phe). Without stringent dietary control, Phe accumulates in the blood and brain of PKU patients, leading to severe cognitive deficits. Achieving metabolic control, defined as blood Phe levels within the range of 120-360 μmol/L, has been a significant challenge for PKU patients using traditional diet therapy. The new FDA approved pharmacologic treatment, Palynziq, offers a new approach that could significantly reduce the burden of PKU by improving blood Phe levels and allowing for a less restrictive diet. As little is known about the global metabolic and physiologic effects of Palynziq, the present study aims to capture changes in diet quality, neurological health, nutritional status, the nutritional metabolome, and patient perceptions of mental and social health with sustained Palynziq therapy.

CONDITIONS

Official Title

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

Who Can Participate

Age: 16Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • 16 years of age or older
  • Diagnosed with PKU through newborn screening or later diagnosis
  • Able to provide consent for medical tests and procedures
  • Have a prescription for Palynziq and enrolled in the Palynziq REMS program
  • For sub-study: Completed visit 2 of the main study
Not Eligible

You will not qualify if you...

  • Unable to provide consent
  • Diagnosed with or taking medication for psychiatric, behavioral, or other inherited metabolic disorders

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 2 locations

1

Emory University Hospital Georgia Clinical Research Center

Atlanta, Georgia, United States, 30322

Actively Recruiting

2

The Emory Clinic

Atlanta, Georgia, United States, 30322

Actively Recruiting

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Research Team

R

Rani Singh, PhD, RDN, LD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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