Testing of Four Home Phenylalanine Monitoring Prototype Devices

Emory University

Status: Completed

Conditions: Phenylketonurias

Study type: Observational

Funder types: Other

Identifiers

NCT02445521

IRB00079788

Details and patient eligibility

About

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.

Full 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.

Enrollment: 9 patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

9 participants in 5 patient groups

PKU (low phe-level)

Description:

A subject diagnosed with phenylketonuria (PKU) with low phenylalanine levels, defined as 1-5 mg/dL

PKU (mid phe-level)

Description:

A subject diagnosed with phenylketonuria (PKU) with middle phenylalanine levels, defined as 6-10 mg/dL

PKU (high mid phe-level)

Description:

A subject diagnosed with phenylketonuria (PKU) with high middle phenylalanine levels, defined as 11-15 mg/dL

PKU (high phe-level)

Description:

A subject diagnosed with phenylketonuria (PKU) with high phenylalanine levels, defined as 16-20+ mg/dL

Control

Description:

A normal subject without phenylketonuria (PKU)