Phenylketonuria
Conditions
Keywords
PKU,, Phe,, PAH,, Kuvan,, Trp,, Tyr
Brief summary
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.
Interventions
None listed
Sponsors
BioMarin Pharmaceutical
Shoji Yano
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Pattern of change from baseline to 6 and 12 months in Vineland scale standard scores, evaluated with a repeated measure ANOVA approach. | One year |
Secondary
| Measure | Time frame |
|---|---|
| Correlation and regression methods (non-linear if appropriate) to examine the relationship between changes in behavior and in amino acid profiles. | one year |
Countries
United States
Outcome results
None listed