Response to Phenylketonuria to Tetrahydrobiopterin (BH4)
Phenylketonuria
About this trial
This is an interventional treatment trial for Phenylketonuria focused on measuring phenylketonuria, hyperphenylalaninemia
Eligibility Criteria
Inclusion Criteria: Subject and/or parent or guardian must be capable of understanding and providing written informed consent Subjects must have Phenylketonuria (PKU)or hyperphenylalaninemia (HPA), defined as baseline blood Phe levels of >600 umol/L Subjects must be at least 10 years of age, and may be of either gender and any ethnic group Female subjects of childbearing potential must agree to use adequate birth control or refrain from sexual activity throughout study participation Exclusion Criteria: Female subjects who are pregnant or breastfeeding Subjects who have concurrent diseases or conditions that require medication or treatment Subjects who require concomitant treatment with any drug known to inhibit folate synthesis Subjects who have been treated with any investigational drug within 30 days
Sites / Locations
- University of Texas Medical Branch
Arms of the Study
Arm 1
Arm 2
Experimental
Placebo Comparator
Treatment Arm
Control Arm
Drug: tetrahydrobiopterin (BH4) Either placebo or BH4, 10mg/kg/day will be given for three months. Then the patient will be given three additional months of open label BH4 at the same rate.
Drug: tetrahydrobiopterin (BH4) Either placebo or BH4, 10mg/kg/day will be given for three months. Then the patient will be given three additional months of open label BH4 at the same rate.