Phenylketonuria PKU
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Groningen
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: In order to be eligible for participation in one of the defined study groups, for each specific study group, subjects should meet the following inclusion criteria:;Group 1: - Subjects meet NIH-diagnostic criteria for phenylketonuria - PKU treatment has been initiated after 6 months of age - Being able to perform daily living activities without the help of specialized caregivers and/or defined IQ score > 80 - Aged >= 18 years;Group 2: - Subjects meet NIH-diagnostic criteria for phenylketonuria - PKU treatment has been initiated after 6 months of age - Living in an institute for mentally retarded persons and/or defined IQ score = 18 years;Group 3: - Subjects meet NIH-diagnostic criteria for phenylketonuria - Early- (within 1 month after birth) and continuously-treated - > 75% of historical data on plasma phenylalanine concentrations below target levels (= 8 years and to whom the procedure can well be explained ;Group 4: - Subjects meet NIH-diagnostic criteria for phenylketonuria - Early- (within 1 month after birth) and continuously-treated - >67% of historical data on plasma phenylalanine concentrations below target levels (=12 years of age: =18 years ;Group 5: - Aged >= 18 years
Exclusion criteria
Exclusion criteria: For each of the defined study groups, patients will be excluded in case of the following:;Group 1: - IQ score 40 after assessment;Group 4: - Diagnosed with ADHD or an autism spectrum disorder;Group 5: - Diagnosed with PKU - ADHD or autism spectrum disorder - Known disorder of amino acid transport
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The primary endpoints of this study will include: -kinetic parameters (Km and Vmax values) for transport of phenylalanine across fibroblast membranes of subjects from the different study groups. | — |
Secondary
| Measure | Time frame |
|---|---|
| The secundary endpoints of this study will include: -kinetic parameters (Km and Vmax values) for transport of tyrosine and tryptophan across fibroblast membranes of subjects from the different study groups. -expression of amino acid transporters in fibroblasts of subjects from the different study groups. -transport characteristics for phenylalanine and other large neutral amino acids will be determined in microvascular endothelial cells. -variances in genes involved in amino acid transport between subjects from the different study groups. | — |
Countries
Netherlands
Outcome results
None listed