Einfluss von Phenylalanin auf kognitive, cerebrale und neurometabolische Parameter bei erwachsenen Patienten mit Phenylketonurie – eine randomisierte, Placebo-kontrollierte, Crossover, Non-inferiority Studie

Dietary Supplement: Phenylalanine;Drug: Placebo

PATIENTS

Inclusion Criteria:

- PKU diagnosed after a positive newborn screening

- Treatment with Phe-restricted diet starting within the first 30 days of life

- Age =18 years

- Capable of following the study design

- Written informed consent

Exclusion Criteria:

- Patients with PKU not following a Phe-restricted diet within 6 months before the study

- Phe concentration above 1600 µmol/L within 6 months before the study

- Concomitant disease states suspected to significantly affect primary or secondary
outcomes, e. g. untreated vitamin B12 deficiency

- Known or suspected non-compliance, drug or alcohol abuse

- Change in medications likely to significantly interfere with cognitive function
testing

- Known or suspected hypersensitivity or allergy to one of the ingredients of the
placebo

- Women who are pregnant or intent to get pregnant during the course of the study or who
are breast feeding

- Female participants of childbearing potential, not using and not willing to continue
using one (or more) highly efficient (Pearl index less than 1) method of contraception
for the entire study duration.

- Inability to follow the procedures of the study, e. g. due to language problems (lack
of fluency in German or French), psychological disorders, dementia, etc. of the
participant.

- Participation in another interventional study within the 30 days preceding and during
the present study.

- Previous enrolment into the current study

- Conditions interfering with MRI such as magnetic (metallic) particles in the skull or
brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or
permanent retainers

HEALTHY CONTROLS

Inclusion Criteria:

- Age =18 years

- Comparable to patients with regard to age, gender and educational level

- Capable of following the study design

- Written informed consent

Exclusion Criteria:

- Known or suspected drug or alcohol abuse

- Change in medications likely to significantly interfere with cognitive function
testing

- Women who are pregnant or intent to get pregnant during the course of the study or who
are breast feeding

- Inability to follow the procedures of the study, e. g. due to language problems (lack
of fluency in German or French), psychological disorders, dementia, etc. of the
participant.

- Participation in another interventional study within the 30 days preceding and during
the present study.

- Previous enrolment into the current study

- Conditions interfering with MRI such as magnetic (metallic) particles in the skull or
brain, cardiac pacemaker, deep brain stimulators, cochlear implant, braces or
permanent retainers