Study of BH4, a New and Simple Treatment of Mild PKU

Phenylketonuria Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00260000
• Other study ID #: 2612-2706-BH4-1
• Status: Completed
• Phase: Phase 2
• First received: November 30, 2005
• Last updated: April 12, 2006
• Start date: April 2005
• Est. completion date: December 2005

Study information

• Verified date: April 2006
• Source: The Kennedy Institute-National Eye Clinic
• Contact: n/a
• Is FDA regulated: No
• Health authority: Denmark: Danish Medicines Agency
• Study type: Interventional

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 15
• Est. completion date: December 2005
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 8 Years and older

Eligibility

Inclusion Criteria:

Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent -

Exclusion Criteria:

Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy

Study Design

Allocation: Non-Randomized, Endpoint Classification: Efficacy Study, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Treatment

Related Conditions & MeSH terms

• Phenylketonuria
• Phenylketonurias

Intervention

Drug:
• 5,6,7,8-tetrahydrobiopterin

Locations

Country	Name	City	State
Denmark	The Kennedy Institute-National Eye Clinic	Glostrup	Copenhagen

Sponsors (2)

Lead Sponsor	Collaborator
The Kennedy Institute-National Eye Clinic	Sygekassernes Helsefond

Country where clinical trial is conducted

Denmark, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Fasting S-phenylalanine at day 0, 1, 2, 5, 7 in each week of treatment with BH4.