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Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome
Led by Emory University · Updated on 2026-01-14
45
Participants Needed
2
Research Sites
N/A
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 a genetic disorder that affects the body's ability to process the amino acid phenylalanine, leading to harmful buildup in the blood and brain. This research is focused on studying the effects of Palynziq, a new FDA-approved drug, on patients with PKU. The study aims to understand how Palynziq impacts diet quality, neurological health, nutritional status, and metabolic changes over time. Participants with PKU who are starting or have recently started Palynziq therapy will be observed for up to three years, with an option to join a sub-study extending the observation for up to five more years. Palynziq is given as an injection under medical supervision following specific safety protocols. Patients will continue their clinical care by submitting blood samples and keeping dietary records as part of their treatment monitoring. During the study, researchers will track changes in protein intake, nutritional markers, cognitive function, sleep quality, emotional health, body composition, and energy use. Assessments include blood tests, questionnaires, and physical measurements from baseline through 12 months post-treatment response, and longer-term follow-up in the sub-study. This allows detailed understanding of how Palynziq therapy affects patients’ health and quality of life over time.
CONDITIONS
Brief Title
Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 16 years of age or older
- Diagnosed with phenylketonuria (PKU) through newborn screening or later diagnosis
- Able to provide consent for medical tests and procedures
- Have a prescription for Palynziq and be enrolled in the Palynziq Risk Evaluation and Mitigation Strategy (REMS) program
- For sub-study: Participants must have completed visit 2 of the main study
You will not qualify if you...
- Unable to provide consent
- Diagnosis of 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
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 14 months after baseline (including up to 12 months post-response)
Participants take Palynziq as prescribed by their genetics doctor, starting with the first injection at the Emory Genetics Clinic under physician supervision. They continue therapy while providing blood spot samples and 3-day dietary records as part of clinical care.
First injection visit and ongoing mailing of blood spot samples and dietary records as part of standard care
Duration - Up to 5 years after completing main study
Participants who complete the main three-year study may join a sub-study to extend monitoring up to an additional five years, assessing long-term changes in diet, neurological health, and nutritional status.
Periodic assessments depending on sub-study participation
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
Research Team
R
Rani Singh, PhD, RDN, LD
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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