PANDA: PKU Amino Acid Evaluation (PANDA)

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

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.

Study Overview

• Status: Completed
• Conditions: Phenylketonuria (PKU)

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.

• Study Type: Observational
• Enrollment (Actual): 37

Contacts and Locations

• Study Contact: Name: Nutricia Research; Phone Number: 0031 30 295 000; Email: register.clinicalresearchnutricia@danone.com

Study Locations

• Belgium
  • Gent, Belgium
    • Dr. P. Verloo
• United Kingdom
  • Birmingham, United Kingdom
    • Birmingham Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 7 months to 10 years (Child)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

Children with PKU and age- and sex-matched non-PKU comparison subjects.

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Children with PKU
Age- and sex-matched non-PKU comparison subjects

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Nutricia Research
• Investigators: Principal Investigator: Dr. P. Verloo, UZ Gent, Belgium

Study record dates

Study Major Dates

• Study Start (Actual): September 10, 2019
• Primary Completion (Actual): December 21, 2022
• Study Completion (Actual): April 14, 2023

Study Registration Dates

• First Submitted: September 10, 2019
• First Submitted That Met QC Criteria: September 10, 2019
• First Posted (Actual): September 11, 2019

Study Record Updates

• Last Update Posted (Actual): June 2, 2023
• Last Update Submitted That Met QC Criteria: June 1, 2023
• Last Verified: September 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: MBB18TA18444

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No