Study of BH4, a New and Simple Treatment of Mild PKU
|ClinicalTrials.gov Identifier: NCT00260000|
Recruitment Status : Completed
First Posted : December 1, 2005
Last Update Posted : April 13, 2006
|Condition or disease||Intervention/treatment||Phase|
|Phenylketonuria||Drug: 5,6,7,8-tetrahydrobiopterin||Phase 2|
PKU, phenylketonuria, is a rare, inherited metabolic disorder 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, phe, to tyrosine is defect, phe accumulates, leading to brain damage. There are different degrees of severity, reflecting the spectrum of mutant genes. BH4, tetrahydrobiopterin, is a co-enzym for the conversion of phe to tyrosine. It is known that BH4 can lower phe in some patients with milder forms of PKU.
The main purpose is to test whether treatment with oral BH4 can replace the protein restrictive diet in patients with mild PKU caused by the frequent mutation Y414C in the phenylalanine hydroxylase gene.
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||15 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation|
|Study Start Date :||April 2005|
|Estimated Study Completion Date :||December 2005|
- Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00260000
|The Kennedy Institute-National Eye Clinic|
|Glostrup, Copenhagen, Denmark, DK-2600|
|Principal Investigator:||Jytte B Nielsen, DMSc||The Kennedy Institute-National Eye Clinic|