Testing of Four Home Phenylalanine Monitoring Prototype Devices

Study Overview
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Brief Summary
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The objective of this study is to test four home phenylalanine monitoring prototype devices, selected out of a pool of candidates by the National PKU Alliance Scientific Committee.

Detailed Description
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A real time, point-of-care and home phenylalanine monitoring system would provide patients with quick results and feedback. Home monitoring devices' phenylalanine measurements will be compared to the current gold-standard measurement of phenylalanine (plasma concentration) in four subjects with PKU and one control subject. The study will enroll subjects with different baseline phenylalanine concentrations (i.e., patients with poor to good metabolic control, assessed by comparing current phenylalanine concentrations to established treatment ranges). For each prototype device, three separate measurements of phenylalanine per subject will be performed. Three prototype devices require whole blood, thus 1 teaspoon (approximately 4mL) of whole blood will be collected through venipuncture and blood spots will be used to conduct tests. One prototype requires capillary blood to be collected through a fingerstick, and will require three blood spots from the stick. A single plasma amino acid analysis for each participant will also be performed using leftover whole blood from the 4mL blood draw through quantitative ion exchange chromatography, reported as micromoles/L.

Official Title
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Testing of Four Home Phenylalanine Monitoring Prototype Devices Using Whole Blood From Normal and PKU Subjects

Conditions
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Phenylketonurias

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: diagnosis of PKU or hyperphenylalaninemia (PKU group) any age in good health (PKU and control group) Exclusion Criteria: pregnant have any medical comorbidities considered unfit for participation by the principal investigator
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| PKU (low phe-level)<br>A subject diagnosed with phenylketonuria (PKU) with low phenylalanine levels, defined as 1-5 mg/dL | |
| PKU (mid phe-level)<br>A subject diagnosed with phenylketonuria (PKU) with middle phenylalanine levels, defined as 6-10 mg/dL | |
| PKU (high mid phe-level)<br>A subject diagnosed with phenylketonuria (PKU) with high middle phenylalanine levels, defined as 11-15 mg/dL | |
| PKU (high phe-level)<br>A subject diagnosed with phenylketonuria (PKU) with high phenylalanine levels, defined as 16-20+ mg/dL | |
| Control<br>A normal subject without phenylketonuria (PKU) | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Intra-variability of the four devices, assessed by phenylalanine values | Phenylalanine values for each of the three runs on each device for the same individual will be compared. Each PKU subject will be assessed separately to assess the reliability of each device since the subjects will have a range of phenylalanine concentrations. | Day 1 | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Inter-variability of the four devices, assessed by average phenylalanine concentrations | Average phenylalanine values measured by the four tests of each device in each subject will be calculated. Mean concentrations for each device will be compared to the control (gold standard measure of plasma phenylalanine). | Day 1 |