Phenylketonuria (PKU)
Conditions
Interventions
The study design is a three-way cross-over study in which three different dosing-regimens will be compared. The study exists of the following three periods:
- Taking BH4 once a day in the morning duri
Sponsors
University Medical Center Groningen
Eligibility
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: 1. Diagnosed with phenylketonuria by newborn screening. 2. Diagnosed as a BH4-responder after a 48-h BH4 loading test and a treatment trial 3. Currently uses sapropterin as part of treatment (with a minimum of three months) 4. Age = 4 years 5. Good metabolic control for the previous 6 months, meaning 75% of the Phe levels are within therapeutic target levels with a minimum of four values.
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: Pregnancy, planning pregnancy or lactation
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary outcome of the study is the comparison of Phe levels between the three treatment regimen. The mean, mean standard deviations (SD) and mean coefficient of variation (CV) of the blood phenylalanine concentrations measured 6 times a day of 2 consecutive days, will be compared for 3 different dosage regimen. | — |
Secondary
| Measure | Time frame |
|---|---|
| - The mean SD and CV of the blood tyrosine concentrations measured 6 times a day of 2 consecutive days, compared for 3 different dosage regimen. - The mean SD and CV of the blood phenylalanine/tyrosine ratio measured 6 times a day of 2 consecutive days, compared for 3 different dosage regimen. - Time of highest and lowest Phe level during the day - (When feasible: the kinetics of dried blood spot pterin concentrations). | — |
Contacts
Public ContactAnnemiek van Wegberg
University Medical Center Groningen (UMCG)
Outcome results
None listed