Ignite Creation Date:
2024-05-05 @ 4:34 PM
Last Modification Date:
2024-10-26 @ 9:21 AM
Study NCT ID:
NCT00260000
Status:
COMPLETED
Last Update Posted:
2006-04-13
First Post:
2005-11-30
Brief Title:
Study of BH4 a New and Simple Treatment of Mild PKU
Sponsor:
The Kennedy Institute-National Eye Clinic
Organization:
The Kennedy Institute-National Eye Clinic
Study Overview
Official Title:
Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation
Status:
COMPLETED
Status Verified Date:
2006-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief Summary:
The main purpose is to test whether treatment with BH4-tablets can replace the protein restrictive diet in patients with mild PKU caused by a certain frequent mutation
Detailed Description:
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
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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None