PANDA: PKU Amino Acid Evaluation

Overview

Phenylketonuria (PKU) is a rare inherited metabolic disorder, where subjects are born with a genetic deficiency in the phenylalanine hydroxylase enzyme (PAH), which leaves them unable to convert Phenylalanine (Phe) into Tyrosine (Tyr). PKU patients have specific dietary needs and must follow a restrictive diet in the aim of preventing toxic levels of the amino acid phenylalanine (Phe) accumulation.

Full Title of Study: “PANDA: A Cross-sectional Study to Measure Blood Amino Acid Levels in PKU Children on a Protein Substitute”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: December 21, 2022

Detailed Description

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.

Arms, Groups and Cohorts

  • Children with PKU
  • Age- and sex-matched non-PKU comparison subjects

Clinical Trial Outcome Measures

Primary Measures

  • Amino acid levels in blood
    • Time Frame: day 1
    • Measuring amino acid levels in blood [μmol/L]
  • Nutrient Intake
    • Time Frame: day 1 – day 3
    • Measured by three-day diet diary. Nutrients in [mg/day]

Participating in This Clinical Trial

Inclusion Criteria

Both PKU and Non-PKU comparison subjects: 1. Age ≥ 2 and ≤ 12 years 2. Willing and able to provide informed consent by parents or legal representatives (and assent if required by local law/regulations) 3. One subject per family PKU subjects specific inclusion criteria:

4. PKU subjects identified by newborn screening and started low Phe diet before 1 month age 5. Usage of at least two Phe-free protein substitutes on a daily basis for at least 26 consecutive weeks up to Visit 1 6. 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:

7. Same age (±3 years) and sex as an included PKU subject Exclusion Criteria:

Both PKU and Non-PKU comparison subjects: 1. Current psychiatric disorders 2. Severe hepatic, thyroid or renal dysfunction 3. Acute illnesses like fever, flu, diarrhea, or vomiting (subjects should be symptom free for a week prior to V1) 4. Serious conditions (e.g. cancer, hydrocephalus, fatal heart disease) 5. 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:

6. Use of BH4, or drugs that may interfere with main outcomes Non-PKU comparison subjects specific exclusion criteria:

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

Gender Eligibility: All

Minimum Age: 2 Years

Maximum Age: 12 Years

Investigator Details

  • Lead Sponsor
    • Nutricia Research
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Dr. P. Verloo, Principal Investigator, UZ Gent, Belgium

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