About the Study

• What Is phenylketonuria (PKU)?

  Phenylketonuria (PKU) is a rare genetic condition caused by a deficiency in an enzyme called phenylalanine hydroxylase, or PAH. In people with PKU, PAH is either missing or not working properly which leads to an excess amount of an amino acid called phenylalanine (Phe) in the blood. This can result in a range of physical and mental problems depending on the severity of the condition. Newborn infants are routinely tested for PKU through blood tests and when caught early, their PKU can be treated and managed to reduce its severity and symptoms. Increased blood Phe levels in women with PKU before and during pregnancy are associated with an increased risk for pregnancy loss, birth defects, poor fetal growth, and intellectual disability. In addition, very low blood Phe levels during the second and third trimesters of pregnancy can also be a risk factor for poor fetal growth. It is very important to keep your phenylalanine levels under control before and during pregnancy.

• What is Palynziq^® (pegvaliase)?

  Palynziq^® is a phenylalanine-metabolizing enzyme indicated to reduce blood phenylalanine concentrations in adult patients with phenylketonuria who have uncontrolled blood phenylalanine concentrations greater than 600 micromol/L on existing management.

• What is the PALomino study?

  While Palynziq^® has helped adult patients with PKU lower their blood Phe levels, more information is needed to see how Palynziq^® may affect pregnant women during pregnancy, how it may affect their baby during the first year of life and how it may affect their baby if they decide to breastfeed while taking Palynziq^®. As such, PALomino is enrolling pregnant women who have taken Palynziq^® at any time during their pregnancy. This study is developed and funded by BioMarin, the company who makes Palynziq^®.

• What can I expect if I decide to participate?

  The first thing you will need to do is contact us to see if you qualify for PALomino.

  The main requirements to join this study are:

  1. being pregnant
  2. taking (or have taken) Palynziq^® at any time during pregnancy (and/or within 2 weeks prior to the date of your last menstrual period)
  3. providing your consent to obtain ongoing relevant medical information from your – and your baby’s – healthcare providers

  There are no clinic visits beyond the regular medical care you receive from your healthcare providers. You can expect your (and your baby’s) participation in the study to last for a total of up to 21 months (up to 9 months of pregnancy and during the first year of your baby’s life) depending on how far along in your pregnancy you are when you enroll.

  If you are pregnant and taking (or have taken) Palynziq^® anytime during your pregnancy, please contact us to see if you qualify to join the PALomino study. By enrolling, you help patients and their doctors be better informed when considering Palynziq^® as part of PKU treatment during pregnancy.