PKU Health Monitoring Study

A Prospective Clinical Study of Phenylketonuria

Protocol Description

The purpose of this multi-center study is to learn more about health problems in people with phenylketonuria (PKU) and how to measure these problems over time. This knowledge will help researchers to design future studies to understand whether health problems improve when testing new drugs for PKU.

Eligibility Criteria

Subject to certain exclusion criteria, this study is enrolling participants ages 14 and up, who have PKU with a phenylalanine level greater than 600 μmol/L (10 mg/dL) and are not receiving drugs to treat PKU.
Boys and Girls: Ages 14 and older


Participation runs for 100 weeks (about 2 years) and requires 7 clinic visits for examinations and 5 additional visits for blood tests, which can be done in the home by a health care professional.
Visits: 12
Duration: 2 years

Status: Open to Enrollment

Source(s) of Support

BioMarin Pharmaceutical

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact: 
Jessica Lindenberger, MSN, CRNP, FNP-C