Human Genetics Growth and Development

PKUDOS - PKU Demographics, Outcomes and Safety Registry (IRB# 29641)

Status: Active



  • Patricia Gordon, MD



The purpose of this research is to collect data on patients diagnosed with phenylketonuria (PKU) that plan to take Kuvan® to help treat PKU. The registry is a voluntary program to watch and record standard of care health information about people with PKU who have taken Kuvan. There are no experimental treatments or tests involved in this registry so it is observational. 



For main registry: Confirmed diagnosis of PKU, has previously received, currently receives, or intends to receive Kuvan therapy within 90 days of enrollment. 

For subregistry: Same as main registry and in addition, are within 10 weeks of their last menstrual period, agree to follow standard of care for pregnant women with PKU and are willing to enroll in main registry. 


Additional Study Details:

What is expected of me and my child?

The main registry will collect data based on a quarterly to annually schedule of assessments as recommended by health care professionals with expertise in the care of PKU patients. The sub-registry will gather additional data on the mother during her pregnancy and follow-up data will be collected during the infant's first month of life. A blood sample (about 2 teaspoons) collected by a needle stick from mother and baby (about 1 teaspoon) when the baby is one month old. This blood will be tested to look at the level of Kuvan in the mother and baby's blood and the results will be shared with the registry. A sample of breast milk (about one ounce) from the mother when the baby is one month old will also be taken to see if there is Kuvan in the breast milk. Breastfeeding mothers may express a sample manually or use a manual breast pump. The results of this test will be shared with the registry.  Patients not able to be consented in clinic will be sent a letter from PI with 2 copies of CF or PPF and receive a phone call explaining registry. These potential participants will be providing written consent.



  • Hope Drive Clinic



Heidi Watts, RN, BSN, CCRC



  • Human Genetics Growth and Development