Study to Evaluate the Effects of Kuvan on Individuals With Phenylketonuria (PKU) With Maladaptive Behaviors

This study has been completed.
BioMarin Pharmaceutical
Information provided by (Responsible Party):
Shoji Yano, University of Southern California Identifier:
First received: July 30, 2008
Last updated: January 17, 2013
Last verified: January 2013
To validate the outcome measures and the tolerability of Kuvan treatment in the improvement of behavioral symptoms in 10 selected adults with Phenylketonuria (PKU) with or without mental retardation.


Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Pilot Study to Evaluate the Effects of Kuvan on Adult Individuals With Phenylketonuria With Measurable Maladaptive Behaviors

Resource links provided by NLM:

Further study details as provided by University of Southern California:

Primary Outcome Measures:
  • Pattern of change from baseline to 6 and 12 months in Vineland scale standard scores, evaluated with a repeated measure ANOVA approach. [ Time Frame: One year ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Correlation and regression methods (non-linear if appropriate) to examine the relationship between changes in behavior and in amino acid profiles. [ Time Frame: one year ] [ Designated as safety issue: No ]

Enrollment: 10
Study Start Date: August 2008
Study Completion Date: May 2010
Primary Completion Date: March 2010 (Final data collection date for primary outcome measure)

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with PKU followed at our clinic

Inclusion Criteria:

  • Biochemical confirmation of PKU,
  • Measurable maladaptive behavior at baseline,
  • Signed informed consent,
  • Not pregnant or lactating,
  • Females on birth control if applicable,
  • Willing to comply.

Exclusion Criteria:

  • Subjects or care provider unreliable, use of investigational products within 30 days prior to enrollment,
  • Pregnant or lactating,
  • Concurrent disease or condition that would interfere with study participation or safety, ie multiple psychotropic meds, any condition the PI renders the subject at high risk, on drugs that inhibit folate synthesis,
  • Concurrent use of levodopa.
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Please refer to this study by its identifier: NCT00728676

United States, California
LAC+USC Medical Center
Los Angeles, California, United States, 90033
Sponsors and Collaborators
Shoji Yano
BioMarin Pharmaceutical
Principal Investigator: Shoji Yano, MD, Ph.D. University of Southern California
  More Information

Responsible Party: Shoji Yano, Director, Genetics Division,, University of Southern California Identifier: NCT00728676     History of Changes
Other Study ID Numbers: BioMarin-300 
Study First Received: July 30, 2008
Last Updated: January 17, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Southern California:

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases processed this record on May 23, 2016