PKU Patient Registry

The PKU Patient Registry collects disease-specific natural history data about individuals with PKU, with the goal of improving the understanding of PKU and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

• Socio-demographics
• Medical history and diagnostics
• Treatment and disease progression
• Management of care
• Quality of life
• Clinical trial participation
• Genetic information

We are interested in sharing our data with you! If you would like access to the PKU Patient Registry data for a research project, please contact our registry administrator at registry@npkua.org for more information. Access to PKU Patient Registry data is contingent upon project approval by the NPKUA Registry Committee.