Phenylketonuria, MaternalPALominoNCT05579548
A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding
An observational study of Phenylketonuria, Maternal, run by BioMarin Pharmaceutical at 4 sites in 4 countries.
Trial 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. Read more about this study
- Who is it for?
- Any age, women only
- Conditions the study is for
- Phenylketonuria, Maternal
- What is being tested?
- Pegvaliase
- How many people
- 50 participants
- Where
- 4 sitesin 4 countries
- Study dates
- 22 Nov 2022to 4 Oct 2032
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- Women only
- Child, Adult, Older adult
Study population: Pregnant women with PKU who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period
Who may be able to join
- 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
Who cannot join
- Currently participating in a BioMarin sponsored interventional study of any investigational product, device, or procedure
Trial locations and contacts
4 sites in 4 countries. Contact the study team or a site near you to ask about taking part.
4 sites in 4 countries
United States1 site, 1 recruiting
- Recruiting
Syneos Health
Wilmington, North Carolina, 28403
Coordinating Center, 833-672-2203, PalynziqPregnancyStudy@syneoshealth.com
Canada1 site, 1 recruiting
- Recruiting
Metabolics and Genetics in Calgary (MAGIC)
Calgary, T2E 7Z4
Aneal Khan, Dr, 587-885-3158, aneal.khan@discoverydna.ca
Germany1 site, 1 recruiting
- Recruiting
Universitaetsklinikum Hamburg Eppendorf
Hamburg, 20246
Professor Muntau, muntau@uke.de
Italy1 site, 1 recruiting
- Recruiting
Ospedale San Paolo
Milan, 20142
Dr. Rovelli, valentina.rovelli@asst-santipaolocarlo.it
About this study
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.
Read the detailed description
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.
- Conditions
- Phenylketonuria, Maternal
- Being tested
- Pegvaliase
- Keywords
- Phase 4, Observational, Maternal, Pregnancy Outcomes, Exposure, Breastfeeding Outcomes
- Medical subject headings
- Phenylketonuria, Maternal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PegvaliaseDrug
Pregnant women exposed to pegvaliase within 2 weeks prior to LMP.
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Drug: Pegvaliase |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 10 years
Secondary outcomes (4)
Pregnancy Outcomes
To compare the frequency of pregnancy outcomes (eg, spontaneous abortion, stillbirth, live birth, and termination) and fetal/infant outcomes (all MCMs and specifically microcephaly and congenital heart defects, FGR, SGA, low birth weight, preterm birth, failure to thrive, and developmental delays) among subjects with PKU treated with pegvaliase during pregnancy and their offspring to information on those same outcomes in non-pegvaliase exposed, pregnant women with PKU as described in reference literature
Measured: 10 years
Pregnancy Outcomes
To examine differences in the frequency of pregnancy outcomes (eg, spontaneous abortion, stillbirth, live birth, and termination) and fetal/infant outcomes (all MCMs and specifically microcephaly and congenital heart defects, FGR, SGA, low birth weight, preterm birth, failure to thrive, and developmental delays) among subjects with PKU treated with pegvaliase during pregnancy and their offspring by maternal blood Phe levels
Measured: 10 years
Serious Adverse Events
To estimate the frequency of serious adverse events (SAEs) other than CMs in infants exposed to pegvaliase during pregnancy through their first year of life
Measured: 10 years
Maternal Pegvaliase use during breastfeeding
To estimate the frequency of selected outcomes in subjects with PKU treated with pegvaliase during breastfeeding (low milk supply) and their infants (failure to thrive and SAEs) through their first year of life
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Oct 2022
- Study start22 Nov 2022
- Primary completion4 Oct 2032 (estimated)
- Study completion4 Oct 2032 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria, MaternalStudies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Syneos Health
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05579548
- Sponsor's protocol ID
- 165-504
- Acronym
- PALomino
- Status last verified
- Mar 2026
- First submitted
- 11 Oct 2022
- Last updated
- 24 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 24 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Global, Multicenter Study to Assess Maternal, Fetal and Infant Outcomes of Exposure to Palynziq® (Pegvaliase) During Pregnancy and Breastfeeding
- ClinicalTrials.gov ID
- NCT05579548
- Acronym / sponsor ID
- PALomino / 165-504
- Conditions
- Phenylketonuria, Maternal
- Keywords
- Phase 4, Observational, Maternal, Pregnancy Outcomes, Exposure, Breastfeeding Outcomes
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Collaborators
- Syneos Health
- Study start
- 22 Nov 2022 (actual)
- Primary completion
- 4 Oct 2032 (estimated)
- Study completion
- 4 Oct 2032 (estimated)
- First posted
- 14 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Pregnant Women with PKU | – | Drug: PegvaliaseThis 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. |
Who may qualify
- Sex
- Female only
- Age groups
- Child, Adult, Older adult
- Study population
- Pregnant women with PKU who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- Currently participating in a BioMarin sponsored interventional study of any investigational product, device, or procedure
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PegvaliasePregnant women exposed to pegvaliase within 2 weeks prior to LMP. | Drug | Pregnant Women with PKU |
Primary outcome
Pregnancy outcome and infant development for women who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period
Time frame: 10 years
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.
4 secondary outcomes
Pregnancy Outcomes
Time frame: 10 years
Pregnancy Outcomes
Time frame: 10 years
Serious Adverse Events
Time frame: 10 years
Maternal Pegvaliase use during breastfeeding
Time frame: 10 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 24 Mar 2026.
- Related InfoLink provided by the sponsor.
Related trials for Phenylketonuria, Maternal
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Medical Director, MD study director
BioMarin Pharmaceutical
4 sites in 4 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria, Maternal, run by BioMarin Pharmaceutical at 4 sites in 4 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 24 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United States, Canada, Germany, Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact 165-504 Program Director (1-800-983-4587, medinfo@bmrn.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Pregnancy outcome and infant development for women who have been treated with Palynziq (pegvaliase) within 2 weeks of their last menstrual period (time frame: 10 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 24 Mar 2026; AzTrials last refreshed its copy on 26 Oct 2026.