ClinicalTrials.gov record NCT05579548

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 6, 2026

A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
SexFemale
LocationCanada, Germany, Italy, United States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

An observational study that collects medical data on pregnant women with PKU who were treated with Palynziq (pegvaliase) around conception or during pregnancy and on their infants through the first year of life. Data are taken from health care providers starting at least 3 months before the last menstrual period, during pregnancy, and during the infant's first year. Individual participation lasts up to about 21 months.

What it is studying. The study is assessing maternal, fetal and infant health outcomes after exposure to Palynziq (pegvaliase) during pregnancy and breastfeeding, including timing of exposure by trimester.

What the researchers hope to learn. To estimate how often different pregnancy outcomes (spontaneous abortion, stillbirth, live birth, termination) and fetal/infant outcomes occur after pegvaliase exposure, including major congenital malformations (with attention to microcephaly and congenital heart defects), fetal growth restriction, small for gestational age, low birth weight, preterm birth, failure to thrive, and developmental delays. To compare these frequencies with published data on non-pegvaliase-exposed pregnancies in PKU, to examine differences by maternal blood phenylalanine levels, and to estimate infant serious adverse events and breastfeeding-related outcomes (for example, low milk supply and infant failure to thrive).

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

This is a Phase 4 observational study designed to assess the impact of Palynziq ® (pegvaliase) treatment in pregnant women with PKU and on their offspring who were exposed to pegvaliase at any time during pregnancy and breastfeeding.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Drug
  • Pegvaliase

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Subject (or a legally authorized representative) consent obtained prior to enrollment. Consent will be obtained in compliance with any country-specific regulations or requirements
  • Confirmation of ongoing pregnancy. Subjects with unknown outcomes will be classified as prospective pregnancies; subjects who have undergone prenatal testing (eg, targeted ultrasound, amniocentesis) regardless of findings will be classified as retrospective pregnancies
  • Diagnosed with PKU per local standard of care
  • Documentation that the subject was treated with pegvaliase at any point starting from 2 weeks prior to the date of LMP
  • Agrees to permit the Investigator (ie, CRP, CCA, PI) to contact the subject's HCPs (eg, PCP, PKU-treating physician, OB, nurse, midwife) and the infant's HCP (eg, pediatrician, neonatologist) for medical information

Exclusion criteria

  • Currently participating in a BioMarin sponsored interventional study of any investigational product, device, or procedure

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Women prescribed pegvaliase by their healthcare provider (HCP) who become pregnant during treatment may decide to participate in the study and enroll via a centralized call center model. Upon consent, data will be collected from the patient's HCP(s) retrospectively for at least 3 months prior to Last Menstrual Period (LMP). Data will be collected during pregnancy and throughout the infant's first year of life. Pegvaliase exposure will be recorded during pregnancy and breastfeeding including exposure during each trimester of pregnancy. Duration of individual subject participation will be up to approximately 21 months.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

After giving consent (often via a centralized call-center process), the study team will collect medical information from the participant's healthcare providers going back at least three months before the LMP, during the pregnancy, and through the infant's first year of life. The study will record timing and duration of pegvaliase exposure, including exposure by trimester. Individual participation may last up to about 21 months. The record does not list any study-assigned treatments or invasive study procedures.

How the study is structured. A prospective observational cohort: pregnant people treated with pegvaliase are enrolled with consent, and medical information is collected from their health care providers retrospectively and prospectively through the infant's first year. No treatments are assigned by the study; pegvaliase exposure and outcomes are recorded and followed for up to about 21 months.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in Canada, Germany, Italy, United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on phenylketonuria

Clinical trials38 trials listed for phenylketonuriaEvery trial the registry lists for phenylketonuria, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in phenylketonuria researchLatest monthly update: September 2026. Includes: Diet supply gaps. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Nov 22, 2022
Primary completion
Oct 4, 2032 (estimated)
Study completion
Oct 4, 2032 (estimated)
Target enrollment
50 participants (estimated)
Last updated on registry
Mar 24, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
BioMarin Pharmaceutical
Collaborators
  • Syneos Health

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (4)

Terms used on this page · explanations by MedicalUpdates.ai

Phase 4
A study of a treatment that is already approved, to learn more about its long-term effects, safety or use in everyday practice.
legally authorized representative
A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
enrollment
The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
standard of care
Treatment generally considered appropriate for a condition in a particular clinical setting. It can vary by patient, place and over time. In many studies the new treatment is added to, or compared with, standard of care.
interventional study
A study in which researchers assign participants to one or more interventions, such as a drug, procedure, device, behavioural programme or other approach, to measure their effects.
investigational product
A treatment that is being tested and has not been approved for this use. It may be approved for a different condition. Being studied does not mean it works or is available outside the study.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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