Phenylketonuria (PKU)
Conditions
Brief summary
Phenylalanine (Phe) free protein substitutes are typically presented in ready to drink liquid or powder format and are made up with water to a set volume. Despite recent advancements related to the taste, scent and texture of commercially available protein substitutes, a proportion of PKU patients choose to consume tablet-based protein substitutes. Protein substitutes in tablet format may help overcome taste, scent and texture concerns associated with powdered and liquid preparations. Indeed, previous research has shown that protein substitute tablets are an effective strategy to manage PKU in children, teenagers and adults. Nonetheless, the daily burden and discipline required often impedes compliance, especially alongside the restrictive low-protein diet. Achieving compliance with multivitamin supplements when given alongside protein substitutes therefore becomes especially challenging. This is particularly true for adolescent, adult and maternal populations. PKU Microtablets have recently been developed. PKU Microtablets are a new phenylalanine-free tablet protein substitute combined with vitamins, minerals and trace elements. As patient acceptability is fundamental to the successful use of any protein substitute, investigation is needed to assess the compliance, tolerance and acceptability of PKU Microtablets as part of a low phenylalanine dietary regimen in PKU patients. This series of case-studies aims to evaluate the gastrointestinal tolerance, acceptability, compliance, and safety of this protein substitute in both adults and children from 4 years. These case studies will last 29 days in total, including a 1-day baseline period followed by a 28-day intervention period. The case studies will be conducted across multiple specialist metabolic centres in the UK.
Interventions
DIETARY_SUPPLEMENTPKU Microtablet protein substitute
PKU Microtablet intervention product
Sponsors
Nutricia UK Ltd
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
4 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Male or female * Over 4 years of age * Patients diagnosed with any phenotype of PKU characterised by hyperphenylalaninaemia * Have been compliant in taking at least one protein substitute, providing at least 20g protein equivalent, for at least 1 month prior to trial commencement * Have a prescribed daily phenylalanine allowance for PKU * Written or electronic informed consent from patient, and/or from parent/caregiver if applicable * Participants who are anticipated to be able to take at least 20g protein equivalent of the case study product per day
Exclusion criteria
* Pregnant or lactating * Requiring parenteral nutrition * Major hepatic or renal dysfunction * Participation in other studies within 1 month prior to entry of this study * Allergy to any of the study product ingredients * Investigator concern around willingness/ability of patient or parent/caregiver to comply with protocol requirement * Treatment with Sapropterin dihydrochloride for less than 6 months
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Gastro-intetsinal tolerance | Measured at baseline (day 1) and end of intervention (day 29) | GI tolerance will be recorded by the Dietitian at baseline on Day 1 and at the end of the case study period (Day 29). GI tolerance will be recorded using a standardised questionnaire to capture perceived severity (none, mild, moderate or severe) of common gastrointestinal symptoms (diarrhoea, constipation, bloating, abdominal discomfort, vomiting and nausea). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Acceptability | Measured at baseline (day 1) and end of intervention (day 29) | Acceptability (ease of use and liking) of the patients' usual protein substitute and the study product will be assessed by the Dietitian at baseline (Day 1) and the end of the case study period (Day 29) by a series of questions posed to the patient and/or parent/caregiver. Acceptability questions will assess the patient's sensory experience, ease of use, tolerance, and overall self-rated acceptability on a 5-point Likert scale from Terrible (worst) to Great (best). |
| Compliance | Measured at baseline (day 1) and end of intervention (day 29) | Compliance with the recommended intake of the patients' usual protein substitute (during baseline) and with the study product (during the case study period) will be assessed by the Dietitian at baseline (Day 1) and at the end of the case study (Day 29). Patients and/or parents/caregivers will be asked to recall the amount of their protein substitute taken in the past 24 hours and on average. This will be compared to the amount recommended to be consumed by their Dietitian. The daily amount prescribed by the Dietitian managing the patient's care will be recorded at the start of the case study and any changes to this prescription during the case study will also be noted. |
| Blood Phe and Tyrosine | Day 2 (baseline) and day 29 (end of intervention) | Participants will be required to provide a total of two fasting fingerprick blood samples as dried blood spots; one on the first day of the intervention period (Day 2) before consuming any of the case study product, and one at the end of the intervention period (Day 29). These tests will be conducted in addition to any usual blood tests the participants conduct as part of their usual disease management, which vary in frequency with the age of the participant and the local policy. Dietitians will also be asked to describe the patient's metabolic control during the case study period. |
| Anthropometry - Height | Day 1 (baseline) and day 29 (end of intervention) | Height will be measured, using standard methods, recorded to the nearest 0.1cm (at baseline only) and used to calculate body mass index (BMI, kg/m2). |
| Anthropometry - Weight | Day 1 (baseline) and day 29 (end of intervention) | For safety purposes, at baseline (Day 1) and at the end of the case study (Day 29), body weight (kg) will be measured where possible using standard methods, recorded to the nearest 0.1kg using a weighing scale without heavy clothing. |
| Patient History | Day 1 (baseline) and day 29 (end of intervention) | A detailed patient history will be recorded at baseline to assess previous compliance to protein substitutes, relevant medical and clinical issues, medication(s) prescribed, and any other relevant information related to the patient's condition or dietary management. |
| Safety/ Adverse events | Throughout the case study series (day 1 to day 29). | All adverse events will be recorded, throughout the case study. |
Countries
United Kingdom
Contacts
CONTACTEllen Taylor
STUDY_DIRECTORGary Hubbard, Dr
Nutricia, Inc.
Outcome results
None listed