Nutritional Impacts of Palynziq on Patients With Phenylketonuria (PKU)

NCT04404530 | Recruiting DMC

• 2 other identifiers: IRB001114502025P011579
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Phenylketonurias

Outcome Measures

Primary Outcomes (3)

• Intra-subject Change in Intact Protein Intake

  Intra-subject change in intact protein intake will be assessed by participant-reported 3-day dietary records.

  Baseline through 12 Months Post-Response (up to 14 months after baseline)

• Intra-subject Change in Medical Food Protein Intake

  Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.

  Baseline through 12 Months Post-Response (up to 14 months after baseline)

• Sub study: Intra-subject change in intact protein and medical food protein intake.

  Intra-subject change in medical food protein intake will be assessed by participant-reported 3-day dietary records.

  12 Months Post-Response through additional five years (6 years post-response)

Secondary Outcomes (22)

• Change in Average Intact Protein Intake

  Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)

• Days From Palynziq Initiation to Response

  Baseline up to Response (up to 60 days)

• Days From Palynziq Initiation to Consumption of Dietary Reference Intake for Intact Protein

  Baseline up to 12 Months Post-Response (up to 14 months after baseline)

• Change in Neuro-QOL - Cognitive Function - Short Form Score

  Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)

• Change in Neuro-QOL Sleep Disturbance - Short Form Score

  Baseline, Response (up to 60 days) 12 Months Post-Response (up to 14 months after baseline)

Study Arms (1)

Palynziq Therapy for PKU

Participants with PKU who are starting Palynziq therapy, or have recently started Palynziq therapy but have not achieved response.

Drug: Palynziq

Interventions

Palynziq DRUG

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.

Also known as: Pegvaliase

Palynziq Therapy for PKU

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients who have been diagnosed with PKU

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Emory University: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (2)

Emory University Hospital Georgia Clinical Research Center

Atlanta, Georgia, 30322, United States

RECRUITING

The Emory Clinic

Atlanta, Georgia, 30322, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples will be obtained to measure amino acids, vitamins, fats, and neurotransmitters. Blood spots will be obtained to determine the PAH gene mutation of participants.

MeSH Terms

Conditions

Phenylketonurias

Interventions

pegvaliase

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Rani Singh, PhD, RDN, LD

  Emory University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rani Singh, PhD, RDN, LD

CONTACT

778-404-8519; rsingh@emory.edu

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 21, 2020
• First Posted: May 27, 2020
• Study Start: October 8, 2019
• Primary Completion (Estimated): December 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: January 14, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (2)