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Completed

NCT Number: NCT05995717

Evaluation of PKU UP

PKU UP is a prospective, single-arm, open-label, 26-week acceptability study to evaluate PKU UP for the dietary management of participants with phenylketonuria (PKU). Up to 15 participants aged 1 - 10 years old will be recruited and it is anticipated the study will open in at least three sites in the United Kingdom (UK) to recruit the target number of participants in the required timeframe.

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Key information

Conditions

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

Age range

1 year–10 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Royal Belfast Hospital for Sick Children, Belfast, United Kingdom

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About this study

PKU is a rare inborn error of metabolism with a prevalence of 1 in 10,000 in the UK population. The mainstay of treatment for most individuals is dietary therapy with a strict protein-restricted diet. We propose to recruit children with a diagnosis of PKU aged 1-10 years.

The study product, PKU UP, is a food for special medical purposes (FSMP), as defined by the Delegated Act EU 2016/128, used for the dietary management of Phenylketonuria (PKU).

The study will be investigating the acceptability of PKU UP, as defined by the Advisory Committee on Borderline Substances (ACBS). This includes the following:

  • participant adherence to recommended intakes
  • gastrointestinal symptoms
  • evaluations of palatability.

Each participant will be on the study for 26 weeks. This includes evaluation part 1 and evaluation part 2:

  • Part 1 consists of a 12 week period where participants introduce the study product into their diet. Gastrointestinal tolerance, metabolic control, compliance, product acceptability and dietary quality will be evaluated.
  • Part 2 consists of a 14 week period where participants continue to take the study product for a longer assessment of growth and nutritional status.

Data collection will be performed using paper and/or electronic Case Report Forms completed by the investigators at the baseline, evaluation periods and end of study visits. There will also be three questionnaires completed by the parents/guardians over the course of the study, in relation to protein substitute intake, gastrointestinal tolerance, and product acceptability.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Diagnosis of PKU requiring a low-protein diet and protein substitute.
  • Participants who are adherent with their blood phenylalanine (Phe) testing, in the opinion of the investigator.
  • Participants aged 1-10 years.
  • Participants who in the opinion of the investigator are anticipated to be able to take at least half of their daily protein equivalent requirement from PKU UP (in order to assess this, a taste test (or similar) may be conducted at investigator's discretion as part of the screening process).
  • Willingly given, written, informed consent from the parent(s)/guardian(s).
  • Willingly given, written assent by the participant (if appropriate).

Exclusion criteria

  • Inability to comply with the study protocol, in the opinion of the investigator.
  • Any co-morbidity, which, in the opinion of the investigator, would preclude participation in the study.
  • Diagnosis of persistent hyperphenylalaninemia, or mild PKU not requiring a low protein diet and protein substitute.
  • Allergy or intolerance to milk.
  • Participants who are currently participating in, plan to participate in or have participated in an interventional investigational drug, food or medical device study within 30 days prior to the screening visit.
  • Use of additional micronutrient supplements during the evaluation period, unless clinically indicated and prescribed by the Investigator (must be recorded in both the medical records and case report form).

Treatment and study plan

PKU UP

Dietary Supplement

PKU UP is a food for special medical purposes (FSMP). This product is for use in the dietary management of Phenylketonuria (PKU) in children aged from one (1) to ten (10) years.

PKU UP is a neutral-flavoured, ready-to-drink, low-phenylalanine protein substitute containing a blend of glycomacropeptide (GMP) isolate, essential and non-essential amino acids, fat, carbohydrate, vitamins, minerals and docosahexaenoic acid (DHA).

Primary outcomes

  1. Change in phe level between baseline and visit 3

    Time frame: 26 weeks

    Change in phe level as measured by dried blood spot testing

  2. Change in tyrosine level between baseline and visit 3

    Time frame: 26 weeks

    Change in tyrosine level as measured by dried blood spot testing

  3. Change in PI impression of metabolic control

    Time frame: Week 0, week 6, week 12, week 26

    Assessment of the participant's metabolic control in the opinion of the investigator

  4. Change in the growth of participants as measured by Height (length in under 2 years of age), Head circumference in under 2 years of age and Weight.

    Time frame: Week 0, week 12, week 26

    Assessed via anthropometry measurements. Participants will be weighed and measured for growth monitoring.

  5. Change in GI tolerance (participant)

    Time frame: Week 0, week 6, week 12, week 26

    Gastrointestinal tolerance assessed using the PedsQL Gastrointestinal Symptoms Scale completed by the participants

  6. Change in PI impression of GI tolerance

    Time frame: Week 0, week 6, week 12, week 26

    Assessment of the participant's GI tolerance in the opinion of the investigator

  7. Change in compliance with study product consumption

    Time frame: Week 0, week 6, week 12, week 26

    Assessed via participant diary regarding study product intake

  8. Change in PI impression of study product intake

    Time frame: Week 0, week 6, week 12, week 26

    Assessment of the participant's compliance in the opinion of the investigator

  9. Change in product acceptability

    Time frame: Week 0, week 12, week 26

    Assessed via a product acceptability questionnaire completed by the participant/parent

  10. Change in dietary intake

    Time frame: Week 0, week 12, week 26

    Assessed via 24-hour recall and low protein food frequency questionnaire

  11. Change in nutritional biochemistry

    Time frame: Week 0, week 26

    Assessed via venous blood sample of approximately 10ml

Sponsors and collaborators

Lead sponsor

Vitaflo International, Ltd

Industry

Collaborators

  • Birmingham Women's and Children's NHS Foundation Trust

Registry information

Official study title

An Acceptability Study to Evaluate the Compliance, Gastrointestinal Tolerance, Palatability and Metabolic Control of Children With Phenylketonuria (PKU) When Using PKU UP (a Food for Special Medical Purposes) as Part of Dietary Management.

Acronym: PKU UP

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Aug 16, 2023
Registry last updated
May 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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