Evaluation of PKU Start

Study Overview
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Brief Summary
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To evaluate the acceptability, tolerance and effect on metabolic control of PKU Start, a new Phe free protein substitute for the dietary management of PKU in infants from birth.

Detailed Description
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This is an assessment of ten (10) infants who require a protein restricted diet that is low in Phe. Infants who routinely use a Phe free infant formula as part of their dietary therapy will be recruited for a 28-day assessment of PKU Start, to evaluate tolerance and acceptability. The outcome of this assessment will be used in a submission to the regulatory authorities, Advisory Committee on Borderline Substances (ACBS), for PKU Start to become reimbursable on prescription in the UK. The participant's dietitian will advise on an appropriate amount of PKU Start based on individual requirements. Parents/carers will be asked to substitute their usual Phe-free infant formula with PKU Start for one (1) month. The sponsor will supply PKU Start free of charge. Prior to starting PKU Start, parents/carers will be asked to record information about the infant's usual GI tolerance and feeding pattern for a period of three (3) days, to allow for comparison between their existing formula and PKU Start. They will be asked to record information about the following: Stools Vomiting and Spit-up Feed / Fluid Intake and Compliance Phenylalanine Levels Final Evaluation about the presentation of the product, ease of preparation and how PKU Start flowed through the teat of a bottle.

Official Title
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A Study to Evaluate the Acceptability of a New Phenylalanine Free Infant Formula for Use in the Dietary Management of Phenylketonuria in Infants From Birth to 2 Year of Age With Regard to Product Tolerance and Adherence.

Conditions
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Phenylketonuria, Inborn Errors of Metabolism

Intervention / Treatment
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* Dietary Supplement: PKU Start


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: A diagnosis of classical or severe PKU on new-born screening (For the purposes of this study, 'severe' is defined as phe concentrations between 120 and 600 µmol/L at diagnosis) Taking a minimum of one (1) feed of a Phe-free infant formula A minimum period of four (4) weeks from the time of diagnosis to initial approach to parents Exclusion Criteria: Diagnosed with mild PKU or hyperphenylalaninaemia (For the purposes of this study, 'mild' is defined as phe concentrations between 120 and 600 µmol/L at diagnosis) Diagnosis of a congenital condition

Ages Eligible for Study
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Minimum Age: 4 Weeks
Maximum Age: 2 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: Consumption of PKU Start<br>Daily feed, substituting the participant's normal phe-free formula for PKU Start. | Dietary Supplement: PKU Start<br>* PKU Start is a powdered, phenylalanine-free, infant formula, containing essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals, trace elements and long chain polyunsaturated fatty acids (LCPs); Arachidonic acid (AA) and Docosahexaenoic acid (DHA). It is suitable for use from birth. The recommended amount of the product for each participant will be determined and prescribed by a dietitian.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Product compliance daily diary | Quantitative assessments from subject questionnaires that allow evaluation of compliance with the study product, i.e. actual versus prescribed intake. | Days 1-28 | 
| GI tolerance daily diary | Qualitative assessments from subject questionnaires that allow evaluation of the gastro-intestinal tolerance of the study product. | Days 1-28 | 
| Ease of use questionnaire | Qualitative assessment from subject questionnaire that allows evaluation of the ease of use of the study product. | Day 29 | 
| Daily phenylalanine control | Collection of quantitative data regarding phenylalanine control using routine biochemical testing | Days 1-28 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Metabolic, Phenylketonuria, PKU, Metabolism, Control, Acceptability