- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01806051
A Pilot Study on Diurnal Variation
A Pilot Study on the Diurnal Variation in PKU Patients With Kuvan
Study Overview
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 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.
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
-
-
California
-
Los Angeles, California, United States, 90027
- Children's Hospital Los Angeles
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
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)
Study Plan
How is the study designed?
Design Details
- Allocation: NON_RANDOMIZED
- Interventional Model: PARALLEL
- Masking: NONE
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
---|---|
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)
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Changes in Plasma Phe and Tyrosine Levels
Time Frame: Baseline and 4 weeks
|
To evaluate the patterns of change in plasma Phe and tyrosine levels between the Baseline visit and 4 week visit for each arm.
|
Baseline and 4 weeks
|
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Linda M. Randolph, MD, Children's Hospital Los Angeles
Study record dates
Study Major Dates
Study Start
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ESTIMATE)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- CCI-12-00178
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Phenylketonuria (PKU)
-
BioMarin PharmaceuticalRecruitingPhenylketonuria (PKU)United States
-
University of Southern CaliforniaBioMarin PharmaceuticalCompleted
-
Stanford UniversityBioMarin PharmaceuticalWithdrawnClassical Phenylketonuria(PKU)
-
BioMarin PharmaceuticalRecruitingPhenylketonuria (PKU)United States, Germany, Italy
-
Nutricia ResearchCompleted
-
BioMarin PharmaceuticalActive, not recruiting
-
BioMarin PharmaceuticalCompletedPhenylketonuria (PKU)United States, Turkey, Canada, France, Germany, Italy, United Kingdom
-
BioMarin PharmaceuticalActive, not recruitingPhenylketonuria (PKU)United States, Germany
-
BioMarin PharmaceuticalCompletedPhenylketonuria (PKU)United States
-
BioMarin PharmaceuticalCompletedPhenylketonuria (PKU)United States
Clinical Trials on Kuvan
-
Washington University School of MedicineUniversity of Missouri-Columbia; BioMarin PharmaceuticalCompleted
-
University of UtahBioMarin PharmaceuticalCompletedGTP Cyclohydrolase DeficiencyUnited States
-
Washington University School of MedicineUniversity of Missouri-Columbia; Northwestern University; Oregon Health and Science... and other collaboratorsTerminated
-
BioMarin PharmaceuticalTerminatedPhenylketonuriaItaly, Switzerland
-
University of Missouri-ColumbiaBioMarin PharmaceuticalCompletedPhenylketonuriaUnited States
-
The University of Texas Health Science Center,...BioMarin PharmaceuticalTerminatedPhenylketonuria | HyperphenylalaninemiaUnited States
-
Providence VA Medical CenterBioMarin Pharmaceutical; LifespanCompletedHeart Failure | Cardiovascular DiseaseUnited States
-
The Children's Health CouncilBioMarin PharmaceuticalCompleted
-
The Children's Health CouncilBioMarin PharmaceuticalCompleted
-
Emory UniversityTerminated