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

Plain Language Summary

Simplified for easier understanding

This study is evaluating the nutritional impact of Palynziq (pegvaliase) — an enzyme therapy for adults with phenylketonuria (PKU). PKU is a genetic condition where the body cannot process phenylalanine, an amino acid found in protein-containing foods, leading to potentially harmful build-up in the blood. Palynziq helps break down phenylalanine, but it can affect how patients tolerate foods and manage their diet. This study tracks nutritional markers and dietary patterns over time in people taking Palynziq. You may be eligible if... - You are 16 years of age or older - You have been diagnosed with PKU (through newborn screening or later in life) - You have a prescription for Palynziq and are enrolled in the Palynziq REMS (Risk Evaluation and Mitigation Strategy) program - You are capable of providing consent for medical tests You may NOT be eligible if... - You are unable to provide informed consent - You have a diagnosis of, or take medication for, psychiatric disorders, behavioural conditions, or other inherited metabolic diseases Talk to your metabolic dietitian and doctor about your PKU diagnosis, your Palynziq prescription status, and any other health conditions before enrolling.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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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.