Clinical Trial: Study of BH4, a New and Simple Treatment of Mild PKU

Study Status: Completed
Recruit Status: Completed
Study Type: Interventional

Official Title: Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation

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 Summary:

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.

Sponsor: The Kennedy Institute-National Eye Clinic

Current Primary Outcome: Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: The Kennedy Institute-National Eye Clinic

Dates:
Date Received: November 30, 2005
Date Started: April 2005
Date Completion: December 2005
Last Updated: April 12, 2006
Last Verified: April 2006