Study of BH4, a New and Simple Treatment of Mild PKU - Full Text View

Purpose

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.

Condition	Intervention	Phase
Phenylketonuria	Drug: 5,6,7,8-tetrahydrobiopterin	Phase II

Genetics Home Reference related topics:

3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency argininosuccinic aciduria citrullinemia N-acetylglutamate synthase deficiency ornithine translocase deficiency phenylketonuria tetrahydrobiopterin deficiency

MedlinePlus related topics:

Phenylketonuria

ChemIDplus related topics:

5,6,7,8-Tetrahydrobiopterin Phenylalanine

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Treatment, Non-Randomized, Open Label, Uncontrolled, Single Group Assignment, Efficacy Study

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

Further study details as provided by The Kennedy Institute-National Eye Clinic:

Primary Outcome Measures:

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

Estimated Enrollment:	15
Study Start Date:	April 2005
Estimated Study Completion Date:	December 2005

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.

Eligibility

Ages Eligible for Study:	8 Years and older
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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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Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00260000

Locations


Denmark, Copenhagen
	The Kennedy Institute-National Eye Clinic
	Glostrup, Copenhagen, Denmark, DK-2600

Sponsors and Collaborators

The Kennedy Institute-National Eye Clinic

The Health Insurance Foundation

Investigators


Principal Investigator:	Jytte B Nielsen, DMSc	The Kennedy Institute-National Eye Clinic

More Information

Study ID Numbers:	2612-2706-BH4-1
First Received:	November 30, 2005
Last Updated:	April 12, 2006
ClinicalTrials.gov Identifier:	NCT00260000
Health Authority:	Denmark: Danish Medicines Agency

Keywords provided by The Kennedy Institute-National Eye Clinic:

mild PKU

Y414C

5,6,7,8-tetrahydrobiopterin, BH4

treatment without protein restriction

Study placed in the following topic categories:

Metabolism, Inborn Errors

Inborn amino acid metabolism disorder

Metabolic Diseases

Genetic Diseases, Inborn

Amino Acid Metabolism, Inborn Errors

Central Nervous System Diseases

Brain Diseases, Metabolic, Inborn

Phenylketonurias

Metabolic disorder

Brain Diseases

Phenylketonuria

Brain Diseases, Metabolic

Additional relevant MeSH terms:

Nervous System Diseases

ClinicalTrials.gov processed this record on October 06, 2008

Sponsors and Collaborators:	The Kennedy Institute-National Eye Clinic The Health Insurance Foundation
Information provided by:	The Kennedy Institute-National Eye Clinic
ClinicalTrials.gov Identifier:	NCT00260000