Hyperphenylalaninaemia (HPA) in adult and paediatric patients of 4 years of age and over with phenylketonuria (PKU).
Conditions
Sponsors
Graz Medical University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: - PAH deficiency proven by new born screening - known BH4 responsive genotype - 4-18 years of age Are the trial subjects under 18? yes Number of subjects for this age range: F.1.2 Adults (18-64 years) yes F.1.2.1 Number of subjects for this age range F.1.3 Elderly (>=65 years) no F.1.3.1 Number of subjects for this age range
Exclusion criteria
Exclusion criteria: - atypical PKU - contraindication for Kuvan - relevant non-compliance - intake of study drug less than 2 weeks befor study
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: Evaluation of a test to identify BH4 responsive Patients.;Secondary Objective: - responsive genotypes - correlation of initial blood phe levels and results in the two respective tests - frequency of deviations from blood phenylalanine target range in both tests - frequency and reasons for deviations from test algorithm ;Primary end point(s): Consistnacy of findings in the two respective tests | — |
Countries
Austria
Outcome results
None listed