Phenylketonurias
Conditions
Brief summary
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
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.
Interventions
None listed
Sponsors
National PKU Alliance
Emory University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Intra-variability of the four devices, assessed by phenylalanine values | Day 1 | 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Inter-variability of the four devices, assessed by average phenylalanine concentrations | Day 1 | 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). |
Countries
United States
Outcome results
None listed