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

NCT ID: NCT00260000

Last Updated: 2006-04-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

PHASE2

Total Enrollment

15 participants

Study Classification

INTERVENTIONAL

Study Start Date

2005-04-30

Study Completion Date

2005-12-31

Brief Summary

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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

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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.

Conditions

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Phenylketonuria

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Interventions

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5,6,7,8-tetrahydrobiopterin

Intervention Type DRUG

Eligibility Criteria

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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

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Minimum Eligible Age

8 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Sygekassernes Helsefond

OTHER

Sponsor Role collaborator

The Kennedy Institute-National Eye Clinic

OTHER_GOV

Sponsor Role lead

Principal Investigators

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Jytte B Nielsen, DMSc

Role: PRINCIPAL_INVESTIGATOR

The Kennedy Institute-National Eye Clinic

Locations

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The Kennedy Institute-National Eye Clinic

Glostrup Municipality, Copenhagen, Denmark

Site Status

Countries

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Denmark

Other Identifiers

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2612-2706-BH4-1

Identifier Type: -

Identifier Source: org_study_id