Trial with BH4, a new and simple treatment of phenylketonuria, PKU - BH4 and PK
- Conditions
- 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.
- Registration Number
- EUCTR2004-002365-21-DK
- Lead Sponsor
- John F. Kennedy Institute
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Recruiting
- Sex
- All
- Target Recruitment
- Not specified
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
1.Less than 8 years old
2.Pregnant or planning pregnancy
Study & Design
- Study Type
- Interventional clinical trial of medicinal product
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method