PKU
Conditions
Keywords
Phenylketonuria, PKU, Glyco-Macro-Peptide, GMP, amino acid, AA, protein substitute, PS, United Kingdom, UK, children, PKU UP, Glycomacropeptide
Brief summary
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
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.
Interventions
DIETARY_SUPPLEMENTPKU UP
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).
Sponsors
Vitaflo International, Ltd
Birmingham Women's and Children's NHS Foundation Trust
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
1 Years to 10 Years
Healthy volunteers
No
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).
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Change in phe level between baseline and visit 3 | 26 weeks | Change in phe level as measured by dried blood spot testing |
| Change in tyrosine level between baseline and visit 3 | 26 weeks | Change in tyrosine level as measured by dried blood spot testing |
| Change in PI impression of metabolic control | Week 0, week 6, week 12, week 26 | Assessment of the participant's metabolic control in the opinion of the investigator |
| 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. | Week 0, week 12, week 26 | Assessed via anthropometry measurements. Participants will be weighed and measured for growth monitoring. |
| Change in GI tolerance (participant) | Week 0, week 6, week 12, week 26 | Gastrointestinal tolerance assessed using the PedsQL Gastrointestinal Symptoms Scale completed by the participants |
| Change in PI impression of GI tolerance | Week 0, week 6, week 12, week 26 | Assessment of the participant's GI tolerance in the opinion of the investigator |
| Change in compliance with study product consumption | Week 0, week 6, week 12, week 26 | Assessed via participant diary regarding study product intake |
| Change in PI impression of study product intake | Week 0, week 6, week 12, week 26 | Assessment of the participant's compliance in the opinion of the investigator |
| Change in product acceptability | Week 0, week 12, week 26 | Assessed via a product acceptability questionnaire completed by the participant/parent |
| Change in dietary intake | Week 0, week 12, week 26 | Assessed via 24-hour recall and low protein food frequency questionnaire |
| Change in nutritional biochemistry | Week 0, week 26 | Assessed via venous blood sample of approximately 10ml |
Countries
United Kingdom
Contacts
PRINCIPAL_INVESTIGATORAnita MacDonald
Birmingham Women's and Children's NHS Foundation Trust
Outcome results
None listed