Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders

• Register: ClinicalTrials.gov
• Last refreshed on: 21 August 2023
• Main ID: NCT01274026
• Date of registration: 10/01/2011
• Prospective Registration: No
• Primary sponsor: Tulane University School of Medicine
• Public title: Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression Kuvan Nonresponders IST
• Scientific title: Evaluation of Behavior, Executive Function, Neurotransmitter Function and Genomic Expression in PKU "Nonresponders" to Kuvan® (Sapropterin Dihydrochloride)
• Date of first enrolment: January 2011
• Target sample size: 21
• Recruitment status: Completed
• URL: https://clinicaltrials.gov/ct2/show/NCT01274026
• Study type: Observational

Countries of recruitment

United States

Contacts

• Name: Hans C Andersson, MD
• Affiliation: Tulane University School of Medicine

Key inclusion & exclusion criteria

Inclusion Criteria:

- established Hayward Genetics Center patients:

- confirmed diagnosis of PKU,

- aged 2-21 years,

- not responsive to sapropterin with decreased blood PHE levels Subsequent to the start
of the study inclusion criteria were amended: the upper limit of age was omitted, and
a limited number of patients who were naive to sapropterin were recruited.

Exclusion Criteria:

- pregnancy

- preexisting cognitive disorder or concurrent disease that would interfere with
participation,

- documented equal to or greater than 20% decrease in blood PHE levels as a response to
sapropterin administration,

- receiving neurotransmitter supplementation or medication for attention deficit
hyperactivity disorder (ADHD),

- received sapropterin therapy in the 2 months prior to the study



Age minimum: 2 Years
Age maximum: 21 Years
Gender: All

Health Condition(s) or Problem(s) studied

PAH Gene Expression

Behavior and Behavior Mechanisms

Phenylketonuria

Intervention(s)

Drug: sapropterin dihydrochloride

Primary Outcome(s)

change in behavior as a result of Kuvan administration [Time Frame: assessment during a 4 week trial of Kuvan]

change in executive function as a result of Kuvan administration [Time Frame: assessment during a 4 week trial of Kuvan]

Secondary Outcome(s)

change in neurotransmitter synthesis [Time Frame: assessment during a 4 week trial of Kuvan administration]

Secondary ID(s)

183590-1

Source(s) of Monetary Support

Please refer to primary and secondary sponsors

Secondary Sponsor(s)

BioMarin Pharmaceutical