Evaluation of PKU UP

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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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.

Conditions
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PKU

Intervention / Treatment
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* Dietary Supplement: PKU UP


Participation Criteria
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Eligibility Criteria
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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 are anticipated to be able to take at least half of their daily protein equivalent requirement from PKU UP. 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).

Ages Eligible for Study
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Minimum Age: 1 Year
Maximum Age: 10 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: PKU UP<br>All participants will be assessed by their dietitian and prescribed an appropriate amount of the study product, PKU UP, to manage their phenylketonuria. | Dietary Supplement: PKU UP<br>* 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).<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Change in phe level between baseline and visit 3 | Change in phe level as measured by dried blood spot testing | 26 weeks | 
| Change in tyrosine level between baseline and visit 3 | Change in tyrosine level as measured by dried blood spot testing | 26 weeks | 
| Change in PI impression of metabolic control | Assessment of the participant's metabolic control in the opinion of the investigator | Week 0, week 6, week 12, week 26 | 
| 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. | Assessed via anthropometry measurements. Participants will be weighed and measured for growth monitoring. | Week 0, week 12, week 26 | 
| Change in GI tolerance (participant) | Gastrointestinal tolerance assessed using the PedsQL Gastrointestinal Symptoms Scale completed by the participants | Week 0, week 6, week 12, week 26 | 
| Change in PI impression of GI tolerance | Assessment of the participant's GI tolerance in the opinion of the investigator | Week 0, week 6, week 12, week 26 | 
| Change in compliance with study product consumption | Assessed via participant diary regarding study product intake | Week 0, week 6, week 12, week 26 | 
| Change in PI impression of study product intake | Assessment of the participant's compliance in the opinion of the investigator | Week 0, week 6, week 12, week 26 | 
| Change in product acceptability | Assessed via a product acceptability questionnaire completed by the participant/parent | Week 0, week 12, week 26 | 
| Change in dietary intake | Assessed via 24-hour recall and low protein food frequency questionnaire | Week 0, week 12, week 26 | 
| Change in nutritional biochemistry | Assessed via venous blood sample of approximately 7ml | Week 0, week 26 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Phenylketonuria, PKU, Glyco-Macro-Peptide, GMP, amino acid, AA, protein substitute, PS, United Kingdom, UK, children, PKU UP, Glycomacropeptide