Interindividual variability in brain vulnerability to elevated blood phenylalanine concentrations in PKU patients - pilot study on amino acid transport in fibroblasts as a representative of the blood-brain barrier - Variable brain vulnerability to high blood phenylalanine levels in PK

niversitair Medisch Centrum Groningen0 个研究点目标入组 18 人开始时间: 待定最近更新: 2024年4月23日

适应症

试验速览

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•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 < 50
•- Aged >= 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 (< 12 years of age: < 360 µmol/L; <= 12 years of age: < 600 µmol/L)
•- Diagnosed with ADHD or an autism spectrum disorder
•- Aged >= 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: <360 µmol/L; >=12 years of age: <600 µmol/L)
•- Aged >=18 years ;Group 5:
•- Aged >= 18 years

•For each of the defined study groups, patients will be excluded in case of the following:;Group 1:
•- IQ score < 80 after assessment;Group 2:
•- 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

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