Phenylketonuria Nutritional, Metabolic, Endocrine
Conditions
Interventions
Multicenter observational and controlled study for the cross-sectional analysis of both patients and age/sex-paired controls, either of pediatric and adult age. In the case of adult PKU patients, thos
Sponsors
Fundació La Marató de TV3
Eligibility
Sex/Gender
All
Age
2 Years to 98 Years
Inclusion criteria
Inclusion criteria: Pediatric (<18 years old) and adult patients (=18 years old) with a genetic diagnosis of PKU or hyperphenylalaninemia (PKU group)
Exclusion criteria
Exclusion criteria: 1. Intelligence quotient below 70 according to the WAIS/WISC tests 2. Pregnancy or planning a pregnancy during the study period 3. Active cancer 4. Severe chronic hepatic disease 5. Acute cardiovascular event in the 6 months prior to study inclusion 6. Common MRI contraindications 7. Creatinine levels =2.0 mg/dL
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Neurological impairment measured using neuropsychological tests (Behavior Rating Inventory of Executive Function for Adults (BRIEF-A), Arithmetic subtest, Vocabulary subtests from the Wechsler Adult Intelligence Scale – IV edition (WAIS-IV)) at baseline, 36 months 2. Cardiovascular risk measured using carotid ultrasound, electrocardiography, continuous blood pressure monitoring, Oral Glucose Tolerance Test (OGTT) at baseline, 36 months | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Microbiota diversity is measured using stool sample analysis at baseline and 36 months 2. Individual metabolomic profiles are measured using blood and urine sample analysis at baseline and 36 months 3. Mitoquines and oxidative stress levels are measured using ELISA (GDF15, Humanin) and colorimetric assays (TBARS, 8-OHdG, TAC) at baseline and 36 months 4. Nutritional status is measured using clinical nutritional assessment, dietary intake record, and body composition analysis (DEXA) at baseline and 36 months 5. Liver morphology and elasticity are measured using liver ultrasound and elastography at baseline and 36 months 6. Physical activity levels are measured using the International Physical Activity Questionnaire (IPAQ) at baseline and 36 months 7. Dietary intake patterns are measured using the Food Frequency Questionnaire (FFQ-143) at baseline and 36 months 8. Cardiovascular health is measured using electrocardiography and ambulatory blood pressure monitoring (ABPM) at baseline and 36 months 9. Brain structure and function are measured using brain magnetic resonance imaging (MRI) at baseline and 36 months | — |
Countries
Spain
Contacts
Public ContactGlòria Garrabou
Outcome results
None listed