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The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)

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ClinicalTrials.gov Identifier: NCT00964236
Recruitment Status : Completed
First Posted : August 24, 2009
Last Update Posted : January 4, 2018
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Shawn Christ, University of Missouri-Columbia

Study Description
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Brief Summary:
The objective of the study is to determine whether Kuvan™ (sapropterin) improves the strength of the functional connectivity between brain regions in individuals with PKU.

Condition or disease Intervention/treatment
Phenylketonuria Drug: Sapropterin

Detailed Description:
The proposed study is designed to evaluate the hypothesis that functional connectivity may represent an early marker for neurocognitive improvements related to Kuvan treatment. As a first step in the study, 20 patients with PKU who are ≥ 6 years of age will receive baseline functional connectivity magnetic resonance imaging (fcMRI) evaluations before being treated with Kuvan™. Response to Kuvan™ will be monitored for 4 weeks. At the end of 4 weeks, response to Kuvan™ will be reviewed and all 20 patients will receive follow-up fcMRI evaluations. Fifteen patients with a reduction of ≥ 20% in blood phenylalanine will continue in the study and receive a third fcMRI evaluation at the end of 6 months of treatment with Kuvan™. For comparison purposes and to control for possible practice effects in repeated testing, a matched control group of 20 healthy individuals without PKU will used. All 20 of the control subjects will receive baseline and 4-week fcMRI evaluations; fifteen will receive a 6-month evaluation.

Study Design
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Study Type : Observational
Actual Enrollment : 20 participants
Observational Model: Case-Control
Time Perspective: Prospective
Official Title: The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)
Study Start Date : August 2009
Actual Primary Completion Date : August 2010
Actual Study Completion Date : August 2011

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Phenylketonuria

Groups and Cohorts
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Group/Cohort Intervention/treatment
Sapropterin
Individuals with phenylketonuria (PKU) who are beginning treatment with Kuvan (sapropterin).
 Drug: Sapropterin
Sapropterin (Kuvan) 20mg/kg/day taken once daily or as otherwise prescribed by physician as standard care.
Other Name: Kuvan
Control
Healthy individuals without phenylketonuria (PKU).


Outcome Measures
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Primary Outcome Measures :
  1. functional magnetic resonance imaging of the brain [ Time Frame: baseline, 4 week, & 6 month follow-up ]

Eligibility Criteria
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Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Primary care clinic for phenylketonuria. Columbia, Missouri, community for control.
Criteria

Inclusion Criteria:

  • Willing and able to provide informed consent or assent.
  • Willing and able to comply with study procedures.
  • Greater than or equal to 6 years of age.
  • For phenylketonuria, intention of physician to prescribe sapropterin.
  • For phenylketonuria, phenylalanine level greater than or equal to 300μmol/L.
  • For phenylketonuria, negative pregnancy test if of childbearing potential.
  • For phenylketonuria, willing to use contraception if sexually active.

Exclusion Criteria:

  • Pregnant, breastfeeding, or planning to become pregnant during study.
  • Use of investigational product less than 30 days prior to or during study.
  • Concurrent condition that could interfere with participation or safety.
  • Any condition creating high risk of poor compliance with study.
  • Perceived to be unreliable or unavailable for study.
  • Use of L-Dopa, methotrexate, or other drugs that inhibit folate metabolism.
  • For phenylketonuria, known hypersensitivity to sapropterin or excipients.
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00964236


Locations
United States, Missouri
University of Missouri
Columbia, Missouri, United States, 65211
Sponsors and Collaborators
University of Missouri-Columbia
BioMarin Pharmaceutical
Investigators
Principal Investigator: Shawn E Christ, Ph.D. University of Missouri-Columbia
More Information
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Additional Information:
Principal Investigator's Laboratory Website  This link exits the ClinicalTrials.gov site

Publications:

Responsible Party: Shawn Christ, Prof Assoc, Psychological Sciences, University of Missouri-Columbia
ClinicalTrials.gov Identifier: NCT00964236     History of Changes
Other Study ID Numbers: PKU/Kuvan/Christ
First Posted: August 24, 2009    Key Record Dates
Last Update Posted: January 4, 2018
Last Verified: January 2018

Keywords provided by Shawn Christ, University of Missouri-Columbia:
sapropterin
Kuvan
cognition
brain

Additional relevant MeSH terms:
Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
 Genetic Diseases, Inborn
Metabolic Diseases
Verapamil
Anti-Arrhythmia Agents
Calcium Channel Blockers
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Vasodilator Agents