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PALomino: Building the Evidence Around Palynziq, Pregnancy and Breastfeeding

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Research & Innovation | PKU
PALomino: Building the Evidence Around Palynziq, Pregnancy and Breastfeeding
Published September 10, 2026
At a Glance
PALomino is a global observational study collecting information about pregnancy, fetal and infant outcomes following exposure to Palynziq (pegvaliase) during pregnancy and breastfeeding.

The study is important because experience with pegvaliase during pregnancy remains limited, even as more adults using newer PKU therapies consider pregnancy and parenthood.

Why Pregnancy Research Matters in PKU

Maintaining safe blood phenylalanine levels during pregnancy is critically important for people with PKU. High maternal phenylalanine can affect fetal development, which is why pregnancy has traditionally required careful metabolic monitoring and treatment planning.

As treatment options for adults with PKU expand, researchers also need better information about how newer therapies may affect pregnancy, breastfeeding and infant outcomes.

What Is Palynziq?
Palynziq, also known as pegvaliase, is an enzyme substitution therapy used to lower blood phenylalanine in adults with PKU whose phenylalanine levels remain inadequately controlled.

Pegvaliase provides an alternate pathway for breaking down phenylalanine rather than relying on the PAH enzyme that is deficient in PKU.

While pegvaliase is an established treatment for eligible adults with PKU, much less information has historically been available about its use during pregnancy and breastfeeding.
What Is the PALomino Study?
PALomino is a global, multicentre observational study sponsored by BioMarin Pharmaceutical.

Rather than assigning participants to a treatment, the study collects information from pregnancies in which exposure to pegvaliase has already occurred. Researchers are evaluating maternal health, pregnancy outcomes, fetal outcomes, infant health and breastfeeding-related information.

As of September 2026, BioMarin continues to list PALomino as recruiting.

What Did We Know Before PALomino?

Pregnant participants were generally excluded from the original pegvaliase clinical trials, so early information came largely from individual case reports and real-world clinical experience.

A published case report described a person with PKU who chose to continue pegvaliase during pregnancy, helping begin the conversation about how the therapy might be managed in this setting.

Another report examined restarting pegvaliase during breastfeeding and found no detectable pegvaliase activity in the breast milk samples studied. However, individual cases cannot establish safety for a larger population.

A Larger Early Look at Pregnancy Outcomes
In 2024, researchers published a retrospective review describing 14 live births following pregnancies in people with PKU who remained on pegvaliase treatment.

The infants were born without congenital anomalies and had normal reported growth parameters. Researchers did note a higher-than-expected rate of preterm birth in the small group studied.

These findings were encouraging, but the authors emphasized the limitations of the small retrospective dataset. Larger, systematically collected information remains necessary.

Why PALomino Still Matters

Case reports and small retrospective studies can provide valuable early signals, but they cannot answer every question about medication use during pregnancy.

PALomino is designed to collect pregnancy and infant information more systematically across multiple centres. Over time, studies like this may help clinicians and families make better-informed decisions about balancing maternal metabolic control with potential treatment risks.

What This Means for Amino Allies in Canada
Pregnancy planning in PKU can involve complicated treatment decisions, particularly when someone is successfully using pegvaliase to maintain lower blood phenylalanine levels.

Research such as PALomino is helping build the evidence needed to support future conversations between patients, metabolic teams and maternal-fetal medicine specialists.

Decisions about starting, continuing, stopping or restarting pegvaliase during pregnancy or breastfeeding should always be individualized with the appropriate health-care team.
Looking for Current Participation Information?
As of this article's publication in September 2026, BioMarin lists PALomino as recruiting.

Recruitment status, participating countries, eligibility and study contacts can change. CanPKU+ therefore recommends checking the official study and sponsor pages below for current information.
Sources: ClinicalTrials.gov, BioMarin Clinical Trials and peer-reviewed publications describing pegvaliase exposure during pregnancy and breastfeeding.

About this article: CanPKU+ provides plain-language research information to help our community understand emerging evidence relevant to PKU.
Research Articles & Updates
CanPKU+ provides research information for educational purposes. Pregnancy and breastfeeding in PKU require individualized medical and metabolic management. Information in this article should not be used to start, stop or change treatment without guidance from the appropriate health-care team.
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