Recruiting

Palynziq

Sponsor:

Emory University

Code:

NCT04404530

Conditions

Phenylketonurias

Eligibility Criteria

Sex: All

Age: 16+

Healthy Volunteers: Not accepted

Interventions

Palynziq

Study Details

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

Study ID

NCT04404530

Start date

Oct 8, 2019

Status verified date

Jan, 2026

Completion date

Dec, 2028

Anticipated

Primary completion date

Dec, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 16+

Healthy Volunteers: Not accepted

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

Study Design

Enrollment

45 participants

Anticipated

Interventions and Outcome Measures

Arms

Palynziq Therapy for PKU

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

Interventions

Palynziq

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.

Primary outcome measure

  • Intra-subject Change in Intact Protein Intake [ Time Frame: Baseline through 12 Months Post-Response (up to 14 months after baseline) ]
  • Intra-subject Change in Medical Food Protein Intake [ Time Frame: 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. [ Time Frame: 12 Months Post-Response through additional five years (6 years post-response) ]

Central Contacts and Locations

Central contacts

Rani Singh, PhD, RDN, LD

778-404-8519rsingh@emory.edu

Locations

Emory University Hospital Georgia Clinical Research Center

Recruiting

Atlanta, Georgia, United States, 30322

The Emory Clinic

Recruiting

Atlanta, Georgia, United States, 30322

More Information

Sponsor

Emory University

Last update posted

Jan 14, 2026

Last verified

Jan, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Emory University on 2026-01-14.