Kuvan Therapy in Phenylketonuria (PKU): The Effect of Blood Phenylalanine Concentration on Kuvan Response
Phenylketonuria
About this trial
This is an interventional treatment trial for Phenylketonuria focused on measuring PKU, Kuvan, BH4, tetrahydrobiopterin
Eligibility Criteria
Inclusion Criteria:
- all patients with a diagnosis of phenylketonuria
- patients who are over the age of 4 years,
- patients with a fasting blood phenylalanine ≥600µmol/l
Exclusion Criteria:
- female patients who are pregnant or attempting to become pregnant
- children under four years of age
- Concurrent disease of condition that would interfere with study participation or safety such as history of neurological compromise or major medical, psychiatric or learning disorder unrelated to PKU
- Any condition that, in the view of the Investigators, places subject at high risk of poor treatment compliance or of not completing the study
- Use of L-Dopa, methotrexate, or other drugs that may inhibit folate metabolism
Sites / Locations
- Department of Biochemistry & Molecular Biology
Arms of the Study
Arm 1
Arm 2
Arm 3
Arm 4
Experimental
Experimental
Experimental
Experimental
Acute 24 Hour Component
Phase 1 Group
Phase 2 Group
Phase 3 Group
Participants will receive one dose of Kuvan 20 mg/kg on Day 1 and assessed for Acute 24 hour Kuvan response.
After completion of acute 24 hour component, participants can enroll in Phase 1 and will receive Kuvan 20 mg/kg by mouth once daily for 28 consecutive days
Participants in Phase 1 that was not responsive will continue on to the Phase 2 of the study. Positive response is defined as a decrease of blood phenylalanine of 30% or greater from baseline taken from morning blood serum. The Phase 2 component of the study will be a 2 week period of dietary restriction.
Participants in Phase 2 that achieves a fasting blood phenylalanine of less than 600 umol/l after 2 week dietary restriction will be retreated with Kuvan 20 mg/kg by mouth once daily for a period of 28 consecutive days.