PANDA: PKU Amino Acid Evaluation

NCT04086511 | Completed DMC

• 1 other identifier: MBB18TA18444
• Study Type: observational
• Target: 37
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

Phenylketonuria (PKU)

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (2)

Children with PKU

Age- and sex-matched non-PKU comparison subjects

Eligibility Criteria

• Age: 2 Years - 12 Years
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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
• Use of BH4, or drugs that may interfere with main outcomes
• PKU diagnosis or any other diagnosed disorder of amino or organic acid metabolism

Sponsors & Collaborators

• Nutricia Research: lead

Study Sites (2)

Dr. P. Verloo

Ghent, Belgium

Location

Birmingham Children's Hospital

Birmingham, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood samples

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Dr. P. Verloo

  UZ Gent, Belgium

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2019
• First Posted: September 11, 2019
• Study Start: September 10, 2019
• Primary Completion: December 21, 2022
• Study Completion: April 14, 2023
• Last Updated: June 2, 2023

Record last verified: 2021-09

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1); BE (1)