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Completed

NCT Number: NCT00260000

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

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.

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Key information

Conditions

Phenylketonuria Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Age range

8 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 2

Primary location

The Kennedy Institute-National Eye Clinic

Glostrup Municipality, Copenhagen, DK-2600, Denmark

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

-

Treatment and study plan

5,6,7,8-tetrahydrobiopterin

Drug

Primary outcomes

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

Sponsors and collaborators

Lead sponsor

The Kennedy Institute-National Eye Clinic

Other Gov

Collaborators

  • Sygekassernes Helsefond

Registry information

Official study title

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

Important dates

Study start
2005
Study completion
2005
First posted
Dec 1, 2005
Registry last updated
Apr 13, 2006

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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