A Pilot Study on Diurnal Variation

• Status: Terminated
• Trial end date: 2014-05-01
• Target enrollment: 0
• Participant gender: All

Summary

This self-controlled, prospective, pilot study is designed to gather information regarding the diurnal variation (changes that occur each day) in the levels of plasma phenylalanine (Phe) and tyrosine in patients with phenylketonuria (PKU) and in the non-PKU population.

• Phase: N/A
• Accepts Healthy Volunteers?: Accepts Healthy Volunteers

Details

• Lead Sponsor: Dr. Linda Randolph
• Collaborator: BioMarin Pharmaceutical

Criteria

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)