PKU, phenylketonuria, is a rare, inherited metabolic disease that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. The conversion of phenylalanine to tyrosine is defect, phe accumulates and leads to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is co-enzym for the conversion of phe to tyrosine. BH4 can lower phe in some patients with milder forms of PKU.
Conditions
Interventions
Product Name: tetrahydrobiopterin
Pharmaceutical Form: Tablet
Sponsors
John F. Kennedy Institute
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Diagnosed PKU with 2 known mutations in the PAH gene, one of these the Y414C mutation 2. At least 8 years old 3. Receiving dietetic treatment for PKU 4. Informed consent from the parents and or the patient 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: 1. Less than 8 years old 2. Pregnant or planning pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main Objective: The main objective is to test if patients with the most common Danish mutation leading to mild PKU respond to treatment with BH4 by lowering the phenylalanine in blood. ;Secondary Objective: The secondary objective is to get a reliable method to test our patients with mild PKU for responsiveness to BH4. We expect later to be able to offer this treatment to the patients. ;Primary end point(s): A maximum of 20 patients with the most common Danish mutation leading to mild PKU have fulfilled the testing for responsiveness to treatment with BH4 | — |
Countries
Denmark
Outcome results
None listed