Clinical trial NCT02445521: Testing of Four Home Phenylalanine Monitoring Prototype Devices
Official title: Testing of Four Home Phenylalanine Monitoring Prototype Devices Using Whole Blood From Normal and PKU Subjects
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Phenylketonurias
Lead sponsor: Emory University
Sponsor class: OTHER
Collaborators: name: National PKU Alliance
First posted: 2015-05-15
Enrollment: 9
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Control will be recruited by distributing an email to all staff on the Emory Genetics Clinic listserv to solicit a volunteer to provide 4ml of whole blood only. Respondents who are within two years of age and the same gender of at least one of the PKU subjects will be considered eligible. Remaining subjects will be recruited through Emory Genetics Clinic and possibly through the Emory Metabolic Nutrition Program's Annual Metabolic Camp.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Intra-variability of the four devices, assessed by phenylalanine values
timeFrame: Day 1
Secondary outcomes:
measure: Inter-variability of the four devices, assessed by average phenylalanine concentrations
timeFrame: Day 1
Other outcomes:
Locations:
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta (CHOA)
state: Georgia
city: Atlanta
country: United States
facility: Emory University Hospital - Atlanta Clinical and Translational Science Institute (ACTSI)
state: Georgia
city: Decatur
country: United States
facility: Emory University Genetics Clinic
state: Georgia
Study officials:
affiliation: Emory University
name: Rani H Singh, PhD, RD, LD
role: PRINCIPAL_INVESTIGATOR
References: