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

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.

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Key information

Conditions

Phenylketonuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

LAC+USC Medical Center

Los Angeles, California, 90033, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

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

Secondary outcomes

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

Sponsors and collaborators

Lead sponsor

Shoji Yano

Other

Collaborators

BioMarin Pharmaceutical

Registry information

Official study title

Pilot Study to Evaluate the Effects of Kuvan on Adult Individuals With Phenylketonuria With Measurable Maladaptive Behaviors

Important dates

Study start: 2008
Primary completion: 2010
Study completion: 2010
First posted: Aug 6, 2008
Registry last updated: Jan 18, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed