PKU explore France is an exploratory study to evaluate the acceptability of PKU explore, a food for special medical purposes, for use in the dietary management of phenylketonuria in infants from 6 months to 3 years of age, assessing participant adherence, GI tolerance, phe levels, growth and product palatability.
The study product, PKU explore, is a concentrated, spoonable, protein substitute food for special medical purposes, used in the dietary management of PKU. The recommended amount will be determined by a dietitian or clinician and the product used is unflavoured. PKU explore France is an exploratory study to evaluate the gastrointestinal tolerance, palatability, and participant adherence over a four-week period in patients with PKU that follow an appropriate restricted therapeutic diet. This will be followed by a maximum 24-month follow-up period monitoring growth as per routine standard of care. Up to 10 participants will be recruited at a single centre in France. For 28 consecutive days, up to 10 participants, aged 6 months to 3 years inclusive, take their usual restricted therapeutic diet, either replacing their usual second-stage, concentrated protein substitute with PKU explore or commencing PKU explore and gradually reducing their Phe-free formula for infants. Their parent/guardian complete a daily questionnaire on adherence and tolerance, and a final questionnaire on usage and acceptability.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
SUPPORTIVE_CARE
Masking
NONE
Enrollment
7
For 28 consecutive days, participants will take their usual restricted therapeutic diet, either: \- Replacing their usual second stage concentrated protein substitute with PKU explore OR \- Commencing PKU explore and gradually reducing their Phe-free formula for infants.
Hôpital Jeanne de Flandre
Lille, Hauts-de-France, France
Adherence to the recommended amount of study product
Quantitative assessments from subject questionnaires that allow evaluation of compliance with the study product (i.e. actual versus prescribed intake), measured in grams consumed per day.
Time frame: Days 1 - 28
Product palatability rated on a Likert scale by the patient after 28 days
Patient assessment of study product's palatability using a Likert scale. At the end of the 28-day acceptability phase, participants/parents/guardians will be required to complete a Product Acceptability Questionnaire to record perceptions about: the appearance, smell, taste, aftertaste, texture, packaging/presentation of the product, also the ease of preparation and administration. These will be on a 5-point Likert scale as Loved it, Liked it, Neither liked nor disliked it, Didn't like it and Really didn't like it.
Time frame: Day 28
Gastrointestinal tolerance daily diary as reported by the patient
Qualitative assessments from subject questionnaires to allow evaluation of any self-reported gastrointestinal symptoms during the study period.
Time frame: Days 1 - 28
Change in Phe levels
Analysis of results from routine dried blood spots. Change in Phe level at diagnosis and at different timepoints measured as µmol/l.
Time frame: Previous three routine results prior to Visit 1, Visit 1 (Day 0), Week 1, Week 2, Week 3, Week 4 and Visit 2 (Day 28)
Evaluation of growth for a minimum of two years follow up period
Height/length, weight and head circumference measurements will be combined to complete the growth chart at each visit. All recorded weights, lengths, and head circumferences will be plotted on a Croissance Somatique Des Garçons/Filles De La Naissance A 3 Ans Chart. The units of measurement are height/length in centimeters, weight in kilograms, and head circumference in centimeters.
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Time frame: Visit 1 (day 0), Visit 2 (Day 28) and Every 4 months for a max. 24 Months' Followup
Product adherence for a minimum of two years follow up period by measuring the quantity of product intake
Measurement of the quantity of product intake. Quantitative assessments from subject questionnaires that allow evaluation of compliance with the study product, i.e. actual versus prescribed intake. Weight of powder prescribed per 24 hours in g (grams) and the number of feeds prescribed per 24 hours (feeds) will be recorded.
Time frame: days 1 - 28
Product adherence for a minimum of two years follow up period by measuring the Phe levels
Measurement of phe levels in µmol/l throughout the evaluation period. The latest Phe level results will be recorded at each visit as µmol/l and compared.
Time frame: Visit 1 (Day 0), Week 1, Week 2, Week 3, Week 4, Visit 2 (Day 28) and every 4 months for a max. 24 Months' Follow-up period