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

This study is enrolling participants by invitation only.
Sponsor:
Collaborator:
BioMarin Pharmaceutical
Information provided by:
University of Missouri-Columbia
ClinicalTrials.gov Identifier:
NCT00964236
First received: August 21, 2009
Last updated: NA
Last verified: August 2009
History: No changes posted
  Purpose

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 Intervention
Phenylketonuria
Drug: Sapropterin (Kuvan)

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: The Effects of Kuvan on Functional Brain Connectivity in Individuals With Phenylketonuria (PKU)

Resource links provided by NLM:


Further study details as provided by University of Missouri-Columbia:

Primary Outcome Measures:
  • functional magnetic resonance imaging of the brain [ Time Frame: baseline, 4 week, & 6 month follow-up ] [ Designated as safety issue: No ]

Estimated Enrollment: 20
Study Start Date: August 2009
Estimated Study Completion Date: August 2011
Estimated Primary Completion Date: August 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Phenylketonuria
Individuals with phenylketonuria (PKU) who are beginning treatment with Kuvan (sapropterin).
Drug: 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).

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.

  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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

Additional Information:
Publications:
Responsible Party: University of Missouri (Shawn Christ, Ph.D., Assistant Professor of Psychological Sciences), University of Missouri-Columbia
ClinicalTrials.gov Identifier: NCT00964236     History of Changes
Other Study ID Numbers: PKU/Kuvan/Christ
Study First Received: August 21, 2009
Last Updated: August 21, 2009
Health Authority: United States: Institutional Review Board

Keywords provided by 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

ClinicalTrials.gov processed this record on September 18, 2014