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Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)
Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome
Who can join
Ages 16 and older · All sexes
Full eligibility criteria
Inclusion Criteria: * 16 years of age or older * diagnosed with PKU through newborn screening or via diagnosis later in life * capable of providing consent for medical tests and procedures * prescription for Palynziq and be enrolled in the Palynziq Risk Evaluation and Mitigation Strategy (REMS) program * Substudy: Participants must have completed visit 2 of the main study Exclusion Criteria: * unable to provide consent * a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders
About the study
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.
What is being tested
- Palynziq (drug)
Sponsor: Emory University · Participants: 45 · Started: Oct 8, 2019
Contact the study team
- Rani Singh, PhD, RDN, LD · Phone: 778-404-8519
Official record on ClinicalTrials.gov — NCT04404530
Locations in the U.S.
| Georgia | Emory University Hospital Georgia Clinical Research Center, Atlanta The Emory Clinic, Atlanta |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.