PANDA: PKU Amino Acid Evaluation

The exploratory study's main objective is to measure blood amino acid levels and to gain quantitative insights in children with PKU on a protein substitute with respect to evaluation of nutritional intake.

Inclusion criteria

Both PKU and Non-PKU comparison subjects:

• Age ≥ 2 and ≤ 12 years
• Willing and able to provide informed consent by parents or legal representatives (and assent if required by local law/regulations)
• One subject per family

PKU subjects specific inclusion criteria:

• PKU subjects identified by newborn screening and started low Phe diet before 1 month age
• Usage of at least two Phe-free protein substitutes on a daily basis for at least 26 consecutive weeks up to Visit 1
• Average Phe-level ≤360 µmol/L based on at least two blood Phe values from the past 12 months up to Visit 1

Non-PKU comparison subjects specific inclusion criteria:

• Same age (±3 years) and sex as an included PKU subject

Exclusion criteria

Both PKU and Non-PKU comparison subjects:

• Current psychiatric disorders
• Severe hepatic, thyroid or renal dysfunction
• Acute illnesses like fever, flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1)
• Serious conditions (e.g. cancer, hydrocephalus, fatal heart disease)
• Participation in any other clinical intervention studies involving test products concomitantly or within six weeks prior to entry into the study

PKU specific exclusion criteria:

• Use of BH4, or drugs that may interfere with main outcomes

Non-PKU comparison subjects specific exclusion criteria:

• PKU diagnosis or any other diagnosed disorder of amino or organic acid metabolism