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| 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 |
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 |
| 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 |
| Estimated Enrollment: | 15 |
| Study Start Date: | April 2005 |
| Estimated Study Completion Date: | December 2005 |
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 |
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
-
Contacts and Locations| Denmark, Copenhagen | |
| The Kennedy Institute-National Eye Clinic | |
| Glostrup, Copenhagen, Denmark, DK-2600 | |
| Principal Investigator: | Jytte B Nielsen, DMSc | The Kennedy Institute-National Eye Clinic |
More Information
| Study ID Numbers: | 2612-2706-BH4-1 |
| Study First Received: | November 30, 2005 |
| Last Updated: | April 12, 2006 |
| ClinicalTrials.gov Identifier: | NCT00260000 |
| Health Authority: | Denmark: Danish Medicines Agency |
|
mild PKU Y414C 5,6,7,8-tetrahydrobiopterin, BH4 treatment without protein restriction |
|
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 |
|
Nervous System Diseases |
