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

The Kennedy Institute-National Eye Clinic

Status and phase: Completed; Phase 2

Conditions: Phenylketonuria

Treatments: Drug: 5,6,7,8-tetrahydrobiopterin

Study type: Interventional

Funder types: Other

Identifiers

NCT00260000

2612-2706-BH4-1

Details and patient eligibility

About

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.

Full 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.

Sex: All

Ages: 8+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)