Evaluation of PKU Sphere

Study Overview
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Brief Summary
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A prospective, open-label study of PKU Sphere in patients with PKU following a phenylalanine restricted therapeutic diet.

Detailed Description
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The rationale for this study is to assess acceptability, adherence and metabolic control in individuals with PKU consuming PKU Sphere, a GMP-based medical food. The sponsor developed PKU Sphere in response to growing interest in GMP medical foods for the purpose of improving adherence and quality of life by offering an alternative to amino acid based medical foods. PKU Sphere is a powdered, low phenylalanine medical food containing a balanced mix of casein glycomacropeptide (GMP) isolate, essential and non-essential amino acids, carbohydrate, fat, vitamins, minerals and the long chain polyunsaturated fatty acid (LCP); docosahexaenoic acid (DHA). PKU Sphere has been designed for use in the dietary management of Phenylketonuria. It is available in two flavors, Red Berry and Vanilla, packaged in individual serving sachets of 35g and containing 20g protein equivalent (PE).

Official Title
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Evaluation of the Acceptability, Tolerance, and Satiety of PKU Sphere, a Glycomacropeptide (GMP) Based Medical Food in Patients With Phenylketonuria (PKU).

Conditions
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Phenylketonurias

Intervention / Treatment
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* Dietary Supplement: PKU Sphere


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of PKU, identified by newborn screening (NBS) and treated since birth. Ages 3 years and above (this includes pregnant women who will be assessed on an individual basis by the Co-Principal Investigators). Currently or previously consuming a low phenylalanine diet supplemented with a medical food designed for the dietary management of PKU. English as primary language. Willingly given, written, informed consent from the participant, 18 or more years, or from the parent/caregiver for participants < 18 years. Willingly given, written assent (if appropriate) for those < 18 years. Exclusion Criteria: Currently consuming 100% of the medical food component of the diet as PKU sphere. An inability, in the opinion of the investigator, to comply with the requirements of the protocol. Any other type of inherited metabolic disease.

Ages Eligible for Study
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Minimum Age: 3 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
Interventional Model Description: Two phase study consisting of a 1 week taste introduction period followed by a 4 week period assessing acceptability and metabolic control.
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: PKU Sphere<br>Phase 1: 1 week To evaluate the acceptability of PKU Sphere during a short-term (1 week) period. Individuals with PKU will aim to consume a minimum of 30% of the medical food component of the diet as PKU Sphere. The amount will be assessed and advised on an individual basis. Phase 2: 4 weeks To evaluate longer-term acceptability and metabolic control in individuals with PKU consuming an agreed target of 50 - 100% of their medical food component of the diet as PKU Sphere for 4 weeks. Some individuals, particularly young children between the ages of 3 - 6 years, may require a 1 - 3 week build up period to reach target volume which will be assessed on an individual basis. | Dietary Supplement: PKU Sphere<br>* PKU Sphere is a glycomacropeptide based alternative to amino-acid based products for the dietary management of phenylketonuria.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Phase 1: taste | Questionnaire data captured to evaluate taste | Days 1 - 7. | 
| Phase 1: smell | Questionnaire data captured to evaluate smell | Days 1 - 7. | 
| Phase 1: texture | Questionnaire data captured to evaluate texture | Days 1 - 7. | 
| Phase 1: gastrointestinal tolerance | Questionnaires will be completed daily during the 1-week taste test. | Days 1 - 7. | 
| Phase 1: phenylalanine concentration | Phenylalanine concentrations measured via blood spot analysis. | Days 1 and 7. | 
| Phase 1: tyrosine concentration | Tyrosine concentrations measured via blood spot analysis. | Days 1 and 7. | 
| Phase 2: quantitative change in plasma amino acids at day 28 | Compare comprehensive plasma amino acid profiles at baseline and end of the trial. | Phase 2, day 1 and day 28. | 
| Phase 2: gastrointestinal tolerance | Questionnaires will be completed daily throughout Phase 2. | Phase 2, days 1 - 28. | 
| Phase 2: change in 3-day diet record at end of study | A 3-day diet record will be completed in the first 3 days and the last 3 days for comparison. | Phase 2, days 1 - 3 and days 26 - 28. | 
| Phase 2: change in anthropometry at end of study | Participants will be weighed and measured, a growth chart plotted (children only), and BMI calculated | Phase 2, days 1 and 28. | 
| Phase 2: phenylalanine concentration | Phenylalanine concentrations measured via blood spot analysis. | Twice weekly for four weeks during phase 2 | 
| Phase 2: tyrosine concentration | Tyrosine concentrations measured via blood spot analysis. | Twice weekly for four weeks during phase 2 | 
| Phase 2: questionnaire data captured to evaluate change in taste perception | Data captured to evaluate taste | Phase 2, days 14 and 28. | 
| Phase 2: questionnaire data captured to evaluate change in smell perception | Data captured to evaluate smell | Phase 2, days 14 and 28. | 
| Phase 2: questionnaire data captured to evaluate change in texture perception | Data captured to evaluate texture | Phase 2, days 14 and 28. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Phase 1: questoinnaire evaluating subjective measures of satiety | To evaluate if PKU Sphere increases subjective measures of satiety | Phase 1, days 1 - 7. | 
| Phase 2: questoinnaire evaluating subjective measures of satiety | To evaluate if PKU Sphere increases subjective measures of satiety | Phase 2, days 1, 14 and 28. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Phenylketonuria, GMP, Sphere, Child, Adult, Phenylalanine, PKU, Glycomacropeptide