A Pilot Study on Diurnal Variation
|Study Design:||Allocation: Non-Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Parallel Assignment
Masking: Open Label
|Official Title:||A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan|
- Changes in Plasma Phe and Tyrosine Levels [ Time Frame: Baseline and 4 weeks ] [ Designated as safety issue: No ]To evaluate the patterns of change in plasma Phe and tyrosine levels between the Baseline visit and 4 week visit for each arm.
|Study Start Date:||March 2013|
|Study Completion Date:||May 2014|
|Primary Completion Date:||May 2014 (Final data collection date for primary outcome measure)|
Experimental: PKU Participants (Arm 1)
Only PKU participants (Arm 1) will be administered Kuvan once daily either at a dose of 20 mg/kg/day (if the PKU participant is not currently taking Kuvan) or at the subject's regular dose (if the PKU participant is currently taking Kuvan). They will remain on Kuvan for 4 weeks.
No Intervention: Control Group (Arm 2)
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 deficiency of this enzyme activity results in a Phe elevation, where higher Phe levels result in neurological damage. Diurnal variations of Phe levels have been observed in PKU patients in a 24-hour period.
As Kuvan has shown to stabilize Phe levels in PKU patients over time, our hypothesis is that this can be demonstrated within a 24-hour period of observation and indicate therefore that Kuvan may correlate with a lower plasma Phe variability. This study on PKU patients' diurnal variation will also provide important information as to the current method of blood Phe monitoring in a clinical setting to learn more about the optimal way to measure Phe concentration.
The study will last about 4 weeks (6 study visits) for the PKU participants and about 1 week (2 study visits) for the control group.
Participants will be required to follow a recommended diet, complete a dietary log, and undergo several blood draws, including a 24-Hour Blood Assessment in which blood will be obtained 8 times throughout the day.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01806051
|United States, California|
|Children's Hospital Los Angeles|
|Los Angeles, California, United States, 90027|
|Principal Investigator:||Linda M. Randolph, MD||Children's Hospital Los Angeles|