A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan

Fecha de inicio: 1 de marzo de 2013

Inclusion Criteria: PKU PARTICIPANTS (ARM 1): Subject has a confirmed diagnosis of PKU with hyperphenylalaninemia documented by a fasting Phenylalanine level of at least 360 umol/L (6 mg/dL) Patient is at least 4 years old (there is no upper age limit for this study) Willing and able to provide written authorization or, if under the age of 18 years, provide written assent (if required) and written patient authorization by a parent or legal guardian Willing to undergo study related procedures including commencing Kuvan treatment for patient not currently on treatment; temporary discontinuation of Kuvan for patient on treatment; and completing the 24-Hour Blood Assessment Authorized to provide personal health information Subjects should not be pregnant and willing to use appropriate birth control during the study CONTROL GROUP (ARM 2): Healthy, non-PKU individuals. They will be age-sex matched to the PKU group. They may be a relative (ex: sibling) of a PKU participant, but they don't have to be a blood relation. Individual is at least 4 years old (there is no upper age limit) Willing and able to provide written consent or, if under the age of 18 years, provide written assent and written participant authorization by a parent or legal guardian Authorized to provide personal health information Exclusion Criteria (BOTH ARMS): Subjects who do not meet all the inclusion criteria Age < 4 years Concomitant medical problems or medications which at the discretion of the principal investigator would put participant at health risk or prevent them from completing study. If female, unwillingness to use birth control during the period of the study drug administration (this doesn't apply to Arm 2)