About the PKU Registry for Pregnant Women and its Goals

About the PKU Registry for Pregnant Women and its Goals

Phenylketonuria (PKU) is a rare disease. It, therefore, is essential to gather information about its progression and the long-term effects of certain treatments. Researchers designed the maternal phenylketonuria observational program — the PKU MOMS sub-registry — to help collect information about the effects of a particular treatment, called Kuvan (sapropterin dihydrochloride), on pregnant women and their babies.

What is the PKU MOMS sub-registry?

PKU MOMS is part of the phenylketonuria demographics, outcomes, and safety (PKUDOS) registry (NCT00778206). This sub-registry was created to monitor patients who have received Kuvan, taken as an oral 100 mg tablet, or as a 100 mg or 500 mg powder for oral suspension.

BioMarin, the therapy’s maker, sponsors both the PKUDOS and the PKU MOMS registries.

What are the goals of the sub-registry?

The sub-registry was designed by scientists to collect data on mothers who took Kuvan before and/or during their pregnancies. The aim is to monitor any complications during the pregnancy or any effects of the treatment on the baby. This information can be useful in assessing the safety of Kuvan in pregnant women. It also could support regulatory approval for Kuvan use during pregnancy.

What information is collected?

Researchers collect data during normal pregnancy care for the mother and her unborn baby, and for up to six months after birth.

Some information that may be collected during pregnancy include demographics, medical history, and physical examination results. Data on any adverse events, blood phenylalanine levels, phenylalanine dietary intake levels, the dose of Kuvan, and any additional medications also may be taken.

The length, weight, and head circumference of the babies at birth will be recorded, with measurements also taken at the infants’ one-month and six-month checkups. From the baby, additional information about blood plasma, the clear portion of the blood, may be collected at birth and at the checkups.

Finally, researchers may collect a breastmilk sample from the mother at the child’s one-month checkup.

Analysis of sub-registry information

A 2014 study provided some preliminary information gathered through the sub-registry, which had data for 23 pregnant women as of June 2013. The results of the initial analysis showed that Kuvan use during pregnancy successfully reduced the number of instances that phenylalanine levels went above the recommended limit.

Adverse events that occurred during the pregnancies, which may have been related to treatment, included one premature labor, a miscarriage (spontaneous abortion), and one infant with hypophagia, which is a reduced desire to eat.

Researchers expect to complete the PKUDOS registry and the PKU MOMS sub-registry at the end of January 2021.


Last updated: Jan. 7, 2021


Phenylketonuria News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

How useful was this post?

Click on a star to rate it!

Average rating 0 / 5. Vote count: 0

No votes so far! Be the first to rate this post.

As you found this post useful...

Follow us on social media!

We are sorry that this post was not useful for you!

Let us improve this post!

Tell us how we can improve this post?