Status:
TERMINATED
A Pilot Study on Diurnal Variation
Lead Sponsor:
Dr. Linda Randolph
Collaborating Sponsors:
BioMarin Pharmaceutical
Conditions:
Phenylketonuria (PKU)
Eligibility:
All Genders
4+ years
Phase:
NA
Brief 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 ...
Detailed Description
Phenylketonuria (PKU) is a rare genetic metabolic disease caused by a mutation that codes for an enzyme that converts the essential amino acid phenylalanine (Phe) into tyrosine. An absence or deficien...
Eligibility Criteria
Inclusion
- 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)
Exclusion
Key Trial Info
Start Date :
March 1 2013
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
May 1 2014
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT01806051
Start Date
March 1 2013
End Date
May 1 2014
Last Update
April 20 2016
Active Locations (1)
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1
Children's Hospital Los Angeles
Los Angeles, California, United States, 90027