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

• Sponsor: The Kennedy Institute-National Eye Clinic (Other)
• Overall Status: Completed
• CT.gov ID: NCT00260000
• Collaborator: Sygekassernes Helsefond (Other)
• Enrollment: 15
• Location: 1
• Duration (Months): 8
• Patients Per Site Per Month: 1.9

Study Details

Study Description

Brief 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.

Condition or Disease	Intervention/Treatment	Phase
Phenylketonuria	Drug: 5,6,7,8-tetrahydrobiopterin	Phase 2

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.

Study Design

• Study Type: Interventional
• Allocation: Non-Randomized
• Intervention Model: Single Group Assignment
• Masking: None (Open Label)
• Primary Purpose: Treatment
• Official Title: Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation
• Study Start Date: Apr 1, 2005
• Study Completion Date: Dec 1, 2005

Outcome Measures

Primary Outcome Measures

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

Eligibility Criteria

Criteria

• Ages Eligible for Study: 8 Years and Older
• Sexes Eligible for Study: All
• 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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Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	The Kennedy Institute-National Eye Clinic	Glostrup	Copenhagen	Denmark	DK-2600

Sponsors and Collaborators

• The Kennedy Institute-National Eye Clinic
• Sygekassernes Helsefond

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• ClinicalTrials.gov Identifier: NCT00260000
• Other Study ID Numbers: 2612-2706-BH4-1
• First Posted: Dec 1, 2005
• Last Update Posted: Apr 13, 2006
• Last Verified: Apr 1, 2006

• Keywords provided by , ,: mild PKU; Y414C; 5,6,7,8-tetrahydrobiopterin, BH4; treatment without protein restriction
• Additional relevant MeSH terms: Phenylketonurias

Study Results

No Results Posted as of Apr 13, 2006