RecruitingNCT04404530

Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

Palynziq and PKU: Treatment Impacts on Diet Quality, Neurological Health, Nutritional Status, and the Metabolome

Sponsor

Emory University

Enrollment

45 participants

Start Date

Oct 8, 2019

Study Type

OBSERVATIONAL

Conditions

Phenylketonurias

Summary

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.

Eligibility

Min Age: 16 Years

Inclusion Criteria5

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 Criteria2

unable to provide consent
a diagnosis of, or take medication for psychiatric, behavioral, or other inherited metabolic disorders

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Interventions

DRUGPalynziq

Participants will take Palynziq as prescribed by their genetics doctor. In accordance with the Palynziq Risk Evaluation and Mitigation Strategy (REMS) protocol, patients will have their first injection of Palynziq at the Emory Genetics Clinic under the supervision of a physician. After initiating therapy, patients will continue to mail in blood spot filter papers and 3-day dietary records to their clinic providers as standard components of clinical care.