Phenylketonuria PKU
Conditions
Interventions
All included patients will be asked to follow a strict protein restricted diet,
aiming at Phe levels of
Sponsors
Erasmus MC
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: - > 18 years of age - Pre-treatment Phenylalanine level as a neonate of > 600 µmol/l - The patient was diagnosed with PKU via newborn screening and immediately treated with a protein restricted diet, throughout childhood
Exclusion criteria
Exclusion criteria: - Incapacity to comprehend the Dutch language or test instructions - Neurological pathologies - Unwillingness to remove eye make up - Ocular pathologies/ visual impairment - Other severe chronic comorbidities including psychiatric conditions that may impair visuo-motor function - Constraint in motor control of the dominant hand and arm - In women: pregnancy or the wish to get pregnant in the near future - In women: The unwillingness to take adequate birth control measures
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| - Eye Latency. This is obtained via eye-hand coordination tasks of different cognitive complexity on a touch screen. Patients will perform eye hand coordination tasks on 7 occasions: at baseline, at the beginning of each intervention period and after 2 and 4 weeks during the intervention periods. | — |
Secondary
| Measure | Time frame |
|---|---|
| Obtained with eye-hand coordination tasks - Task performance - Saccadic Error - Correction Latency - Hand Latency - Hand Error Obtained via quality of life questionnaires: Scores of the different domains of the: - generic SF-36 questionnaire - the HADS questionnaire - the disease specific PKU-Qol questionnaire | — |
Countries
Netherlands
Outcome results
None listed