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

This study is enrolling participants by invitation only.

Sponsors and Collaborators:	University of Southern California BioMarin Pharmaceutical
Information provided by:	University of Southern California
ClinicalTrials.gov Identifier:	NCT00728676

Purpose

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.

Condition
Phenylketonuria

Genetics Home Reference related topics: argininosuccinic aciduria citrullinemia N-acetylglutamate synthase deficiency ornithine translocase deficiency phenylketonuria tetrahydrobiopterin deficiency

MedlinePlus related topics: Phenylketonuria

Drug Information available for: Sapropterin Phenylalanine

U.S. FDA Resources

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

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 ]

Biospecimen Retention: None Retained

Biospecimen Description:

Estimated Enrollment:	13
Study Start Date:	August 2008
Estimated Study Completion Date:	February 2010
Estimated Primary Completion Date:	December 2009 (Final data collection date for primary outcome measure)

Eligibility

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

Criteria

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.

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00728676

Locations

United States, California
LAC+USC Medical Center
Los Angeles, California, United States, 90033

Sponsors and Collaborators

University of Southern California

BioMarin Pharmaceutical

Investigators

Principal Investigator:

Shoji Yano, MD, Ph.D.

University of Southern California

More Information

Responsible Party:	University of Southern California ( Shoji Yano, M.D., Ph.D., Chief, Genetics Division )
Study ID Numbers:	BioMarin-300
Study First Received:	July 30, 2008
Last Updated:	August 8, 2008
ClinicalTrials.gov Identifier:	NCT00728676
Health Authority:	United States: Institutional Review Board

Keywords provided by University of Southern California:

PKU,
Phe,
PAH,

Kuvan,
Trp,
Tyr

Study placed in the following topic categories:

Metabolism, Inborn Errors
Inborn amino acid metabolism disorder
Metabolic Diseases
Genetic Diseases, Inborn
Amino Acid Metabolism, Inborn Errors
Central Nervous System Diseases

Brain Diseases, Metabolic, Inborn
Phenylketonurias
Metabolic disorder
Brain Diseases
Phenylketonuria
Brain Diseases, Metabolic

Additional relevant MeSH terms:

Nervous System Diseases

ClinicalTrials.gov processed this record on January 13, 2009