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

This study has been completed.
Sponsor:
Information provided by (Responsible Party):
Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier:
NCT00986973
First received: September 28, 2009
Last updated: April 24, 2015
Last verified: April 2015
Results First Received: February 22, 2013  
Study Type: Interventional
Study Design: Endpoint Classification: Efficacy Study;   Intervention Model: Single Group Assignment;   Masking: Single Blind (Outcomes Assessor);   Primary Purpose: Treatment
Condition: Phenylketonuria
Intervention: Drug: Sapropterin

  Participant Flow
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Recruitment Details
Key information relevant to the recruitment process for the overall study, such as dates of the recruitment period and locations
Patients with Classical PKU who were being followed at Children's Hospital of Philadelphia were recruited between 2010 and 2011. Study participation was presented during routine clinic visits and interested subjects were screened for eligibility. A flier was posted on PKU support group websites help recruit additional subjects.

Pre-Assignment Details
Significant events and approaches for the overall study following participant enrollment, but prior to group assignment
Six adults (4 male and 2 females) were interested in participating in the study, each signed informed consent forms and were screened for eligibility. All six were enrolled.

Reporting Groups
  Description
Sapropterin (KUVAN) All subjects received 20 mg/kg/day Sapropterin (KUVAN) for four months. Subjects were examined with fluorodeoxyglucose positron emission tomography (FDG-PET) brain imaging, physical and neurological exam, blood tests for phenylalanine (Phe) and tyrosine levels, and neuropsychological testing before and 4 months after KUVAN therapy. Subjects' Phe and tyrosine levels were monitored weekly during the study and subjects kept 3-day diet records to allow for calculation of Phe intake.

Participant Flow:   Overall Study
    Sapropterin (KUVAN)  
STARTED     6  
COMPLETED     5 [1]
NOT COMPLETED     1  
Withdrawn by study team                 1  
[1] One subject was withdrawn from the study due to poor compliance with KUVAN therapy.



  Baseline Characteristics
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Population Description
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate.
No text entered.

Reporting Groups
  Description
Sapropterin (KUVAN) All subjects received 20 mg/kg/day KUVAN for four months.

Baseline Measures
    Sapropterin (KUVAN)  
Number of Participants  
[units: participants]
  6  
Age  
[units: participants]
 
<=18 years     0  
Between 18 and 65 years     6  
>=65 years     0  
Age  
[units: years]
Mean (Standard Deviation)
  31  (11.8)  
Gender  
[units: participants]
 
Female     2  
Male     4  
Region of Enrollment  
[units: participants]
 
United States     6  



  Outcome Measures
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1.  Primary:   Plasma Phenylalanine Level (mg/dl)   [ Time Frame: Measurements were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

2.  Secondary:   Hopkins Verbal Learning Test (HVLT) Total Recall   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

3.  Secondary:   Hopkins Verbal Learning Test (HVLT) Delayed Recall   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

4.  Secondary:   Paced Auditory Serial Addition Task (PASAT)   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

5.  Secondary:   Symbol-Digit Modalities Test (SMTD)   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

6.  Secondary:   Wechsler Adult Intelligence Scale (WAIS-IV)-Digit Span   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]

7.  Secondary:   Delis-Kaplan Executive Function System Verbal Fluency Subtest (D-KEFS)   [ Time Frame: Measures were obtained at the beginning and conclusion of each study period (baseline and 4 months) ]


  Serious Adverse Events


  Other Adverse Events


  Limitations and Caveats
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Limitations of the study, such as early termination leading to small numbers of participants analyzed and technical problems with measurement leading to unreliable or uninterpretable data
Due to small sample size, the statistical power of this study is low. While it is useful in exploring potential trends, the results of this pilot study should be cautiously interpreted. Further studies with a larger sample of subjects are needed.


  More Information
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Certain Agreements:  
All Principal Investigators ARE employed by the organization sponsoring the study.


Results Point of Contact:  
Name/Title: Dr. Can Ficicioglu
Organization: The Children's Hospital of Philadelphia
phone: 2155905876
e-mail: ficicioglu@email.chop.edu


No publications provided


Responsible Party: Children's Hospital of Philadelphia
ClinicalTrials.gov Identifier: NCT00986973     History of Changes
Other Study ID Numbers: IRB 09-007154
Study First Received: September 28, 2009
Results First Received: February 22, 2013
Last Updated: April 24, 2015
Health Authority: United States: Institutional Review Board