Status:
COMPLETED
Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy
Lead Sponsor:
Children's Hospital of Philadelphia
Conditions:
Phenylketonuria
Eligibility:
All Genders
18-50 years
Phase:
NA
Brief Summary
The aim of this pilot study is to determine if there are any changes in brain glucose metabolism in the gray matter of patients with Phenylketonuria (PKU) and whether administration of Sapropterin (KU...
Detailed Description
Phenylketonuria (PKU) is an autosomal recessive disorder resulting from a deficiency of phenylalanine hydroxylase, which converts phenylalanine to tyrosine. Phenylalanine hydroxylase is one of the thr...
Eligibility Criteria
Inclusion
- Males or females over the age of 18 years
- Subject must be able to give independent informed consent
- Girls must have a negative urine pregnancy test and must use an acceptable method of contraception, including abstinence, a barrier method (diaphragm or condom), Depo-Provera, or an oral contraceptive, for the duration of the study.
- Subject must have a confirmed diagnosis of PKU
- Subjects with Phenylalanine (Phe) levels over 10 mg/dL
- Subjects naïve to KUVAN therapy or has not received KUVAN in the 6 months before screening
Exclusion
- Pregnancy
- Cognitive deficits resulting from physical trauma (e.g. subject with history of severe birth trauma).
- Neurologic comorbidities including a history of a stroke or a seizure disorder.
- Laboratory abnormalities that indicate clinically significant hepatic disease Aspartate aminotransferase (AST)\> 2.0 times the upper limit of normal, Alanine transaminase (ALT) \> 2.0 times the upper limit of normal, Prothrombin Time (PT) \> 2.0 times the upper limit of normal, Partial Thromboplastin Time(PTT) \> 2.0 times the upper limit of normal
- Subjects using medications such as steroids, insulin and glucagons that may interfere with the results of PET scan.
- Subjects using medications that inhibit folate metabolism such as methotrexate
- Subjects using medications known to affect nitric oxide-mediated vasorelaxation.
- Subjects using Levodopa
- Treatment with KUVAN in the past 6 months before study entry.
- Treatment with any investigational product in the last 90 days before study entry
Key Trial Info
Start Date :
March 1 2010
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
September 1 2011
Estimated Enrollment :
6 Patients enrolled
Trial Details
Trial ID
NCT00986973
Start Date
March 1 2010
End Date
September 1 2011
Last Update
June 8 2015
Active Locations (1)
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1
Children's Hospital of Philadelphia, Section of Metabolism,PKU program
Philadelphia, Pennsylvania, United States, 19106