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

This study has been completed.
Sygekassernes Helsefond
Information provided by:
The Kennedy Institute-National Eye Clinic Identifier:
First received: November 30, 2005
Last updated: April 12, 2006
Last verified: April 2006

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
Drug: 5,6,7,8-tetrahydrobiopterin
Phase 2

Study Type: Interventional
Study Design: Allocation: Non-Randomized
Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
Official Title: Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation

Resource links provided by NLM:

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.


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

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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Please refer to this study by its identifier: NCT00260000

The Kennedy Institute-National Eye Clinic
Glostrup, Copenhagen, Denmark, DK-2600
Sponsors and Collaborators
The Kennedy Institute-National Eye Clinic
Sygekassernes Helsefond
Principal Investigator: Jytte B Nielsen, DMSc The Kennedy Institute-National Eye Clinic
  More Information

No publications provided Identifier: NCT00260000     History of Changes
Other Study ID Numbers: 2612-2706-BH4-1
Study First Received: November 30, 2005
Last Updated: April 12, 2006
Health Authority: Denmark: Danish Medicines Agency

Keywords provided by The Kennedy Institute-National Eye Clinic:
mild PKU
5,6,7,8-tetrahydrobiopterin, BH4
treatment without protein restriction

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases processed this record on October 09, 2015