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N/A N=6 Single-blind Treatment

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

Phenylketonuria

Enrolled (actual)
6
Serious AEs
0.0%
Results posted
May 2015
Primary outcome: Primary: Plasma Phenylalanine Level (mg/dl) — 18.0; 17.2 mg/dl — p=>0.05

Study Design & Population

Study type
Interventional
Phase
N/A
Interventions
Sapropterin (Drug)
Age
Adult · 18+ yrs
Sex
All
Sponsor
Children's Hospital of Philadelphia
Primary completion
Jul 2011

Outcome Measures

OutcomeResultp-value
PRIMARY
Plasma Phenylalanine Level (mg/dl)
18.0; 17.2 >0.05
SECONDARY
Hopkins Verbal Learning Test (HVLT) Total Recall
51; 53 0.82
SECONDARY
Hopkins Verbal Learning Test (HVLT) Delayed Recall
47; 49 0.46
SECONDARY
Paced Auditory Serial Addition Task (PASAT)
0.4700; 0.94 0.071
SECONDARY
Symbol-Digit Modalities Test (SMTD)
63; 79 0.25
SECONDARY
Wechsler Adult Intelligence Scale (WAIS-IV)-Digit Span
33; 37 0.050
SECONDARY
Delis-Kaplan Executive Function System Verbal Fluency Subtest (D-KEFS)
10; 11 0.34

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.

Eligibility Criteria

Inclusion Criteria

  • 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 Criteria

  • 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
View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT00986973). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.

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