NCT05579548

Brief Summary

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.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
50

participants targeted

Target at P25-P50 for all trials

Timeline
78mo left

Started Nov 2022

Longer than P75 for all trials

Geographic Reach
4 countries

4 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress35%
Nov 2022Oct 2032

First Submitted

Initial submission to the registry

October 11, 2022

Completed
3 days until next milestone

First Posted

Study publicly available on registry

October 14, 2022

Completed
1 month until next milestone

Study Start

First participant enrolled

November 22, 2022

Completed
9.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

October 4, 2032

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

October 4, 2032

Last Updated

March 24, 2026

Status Verified

March 1, 2026

Enrollment Period

9.9 years

First QC Date

October 11, 2022

Last Update Submit

March 20, 2026

Conditions

Phenylketonuria, Maternal

Keywords

Phase 4ObservationalMaternalPregnancy OutcomesExposureBreastfeeding Outcomes

Outcome Measures

Primary Outcomes (1)

  • Pregnancy outcome and infant development for women who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period

    To estimate the frequency of pregnancy outcomes (eg, spontaneous abortion, stillbirth, live birth, and termination) among subjects with PKU treated with pegvaliase during pregnancy and fetal/infant outcomes (all major congenital malformations \[MCMs\] and specifically microcephaly and congenital heart defects\], FGR, small for gestational age \[SGA\], low birth weight, preterm birth, failure to thrive, and developmental delays) among their offspring exposed to pegvaliase during pregnancy.

    10 years

Secondary Outcomes (4)

  • Pregnancy Outcomes

    10 years

  • Pregnancy Outcomes

    10 years

  • Serious Adverse Events

    10 years

  • Maternal Pegvaliase use during breastfeeding

    10 years

Study Arms (1)

Pregnant Women with PKU

This study will enroll pregnant women diagnosed with PKU who have been treated with pegvaliase from 2 weeks prior to LMP or at any time during pregnancy.

Drug: Pegvaliase

Interventions

PegvaliaseDRUG

Pregnant women exposed to pegvaliase within 2 weeks prior to LMP.

Pregnant Women with PKU

Eligibility Criteria

Sexfemale(Gender-based eligibility)
Gender Eligibility DetailsOnly pregnant women with PKU who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period are eligible.
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Pregnant women with PKU who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period

You may qualify if:

  • 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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (4)

Syneos Health

Wilmington, North Carolina, 28403, United States

RECRUITING

Metabolics and Genetics in Calgary (MAGIC)

Calgary, T2E 7Z4, Canada

RECRUITING

Universitaetsklinikum Hamburg Eppendorf

Hamburg, 20246, Germany

RECRUITING

Ospedale San Paolo

Milan, 20142, Italy

RECRUITING

Related Links

MeSH Terms

Conditions

Phenylketonuria, Maternal

Interventions

pegvaliase

Condition Hierarchy (Ancestors)

PhenylketonuriasBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesPregnancy ComplicationsFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Medical Director, MD

    BioMarin Pharmaceutical

    STUDY DIRECTOR

Central Study Contacts

165-504 Program Director

CONTACT

1-800-983-4587medinfo@bmrn.com

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

October 11, 2022

First Posted

October 14, 2022

Study Start

November 22, 2022

Primary Completion (Estimated)

October 4, 2032

Study Completion (Estimated)

October 4, 2032

Last Updated

March 24, 2026

Record last verified: 2026-03

Locations

US(1)DE(1)CA(1)IT(1)