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8301: A Longitudinal Study of Hyperphenylalaninemia

What is the study about?

The purpose of our study is to learn more about people who have conditions such as PKU that raise phenylalanine levels (hyperphenylalaninemia). If you are in the study, we will gather information over time about your health, well-being, and thinking abilities. We hope this information will help improve treatment and quality of life for people with PKU and related conditions.

What will I be asked to do?

In addition to your regular clinic visits, you will be asked to:

  • Complete surveys
  • Take neuropsychological tests
  • Complete diet records
  • Have bone density scans
  • Have physical examinations
  • Have your medical records reviewed

Some of the study procedures may be completed online from your home, while others will be completed in person. The neuropsychological tests will take several hours, and you will be offered $200 each year for completing them.

Who can join the study?

You may be able to join the study if you or your child was born in or after 1963 and has PKU or another condition that raises Phe.