Fluorodeoxyglucose Positron Emission Tomography (FDG PET) Findings in Patients With Phenylketonuria Before and After KUVAN Therapy

• Status: Completed
• Trial end date: 2011-09-01
• Target enrollment: 0
• Participant gender: All

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 (KUVAN) therapy can improve such deficits.

• Phase: N/A
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Children's Hospital of Philadelphia
• Treatments: Deoxyglucose; Verapamil

Criteria

Inclusion Criteria:

1. Males or females over the age of 18 years

2. Subject must be able to give independent informed consent

3. 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.

4. Subject must have a confirmed diagnosis of PKU

5. Subjects with Phenylalanine (Phe) levels over 10 mg/dL

6. Subjects naïve to KUVAN therapy or has not received KUVAN in the 6 months before screening

Exclusion Criteria:

1. Pregnancy

2. Cognitive deficits resulting from physical trauma (e.g. subject with history of severe birth trauma).

3. Neurologic comorbidities including a history of a stroke or a seizure disorder.

4. 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

5. Subjects using medications such as steroids, insulin and glucagons that may interfere with the results of PET scan.

6. Subjects using medications that inhibit folate metabolism such as methotrexate

7. Subjects using medications known to affect nitric oxide-mediated vasorelaxation.

8. Subjects using Levodopa

9. Treatment with KUVAN in the past 6 months before study entry.

10. Treatment with any investigational product in the last 90 days before study entry