SNPMiner Trials by Shray Alag


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Report for Mutation Y414C

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


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

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.

NCT00260000 Phenylketonuria Drug: 5,6,7,8-tetrahydrobiopterin
MeSH: Phenylketonurias
HPO: Hyperphenylalaninemia Reduced phenylalanine hydroxylase activity

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

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 - 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 - Phenylketonuria Phenylketonurias 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. --- Y414C ---

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 - 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 - Phenylketonuria Phenylketonurias 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. --- Y414C --- --- Y414C ---

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. --- Y414C ---

Primary Outcomes

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


HPO Nodes


Reduced phenylalanine hydroxylase activity
Genes 1
PAH