Testing of Four Home Phenylalanine Monitoring Prototype Devices

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

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.

Study Overview

• Status: Completed
• Conditions: Phenylketonurias

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.

• Study Type: Observational
• Enrollment (Actual): 9

Contacts and Locations

Study Locations

• United States
  • Georgia
    • Atlanta, Georgia, United States, 30322
      • Emory University Hospital - Atlanta Clinical and Translational Science Institute (ACTSI)
    • Atlanta, Georgia, United States, 30322
      • Children's Healthcare of Atlanta (CHOA)
    • Decatur, Georgia, United States, 30033
      • Emory University Genetics Clinic

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

5

Cohorts and Interventions

Group / Cohort
PKU (low phe-level); A subject diagnosed with phenylketonuria (PKU) with low phenylalanine levels, defined as 1-5 mg/dL
PKU (mid phe-level); A subject diagnosed with phenylketonuria (PKU) with middle phenylalanine levels, defined as 6-10 mg/dL
PKU (high mid phe-level); A subject diagnosed with phenylketonuria (PKU) with high middle phenylalanine levels, defined as 11-15 mg/dL
PKU (high phe-level); A subject diagnosed with phenylketonuria (PKU) with high phenylalanine levels, defined as 16-20+ mg/dL
Control; A normal subject without phenylketonuria (PKU)

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Emory University
• Collaborators: National PKU Alliance
• Investigators: Principal Investigator: Rani H Singh, PhD, RD, LD, Emory University

Study record dates

Study Major Dates

• Study Start: May 1, 2015
• Primary Completion (Actual): May 1, 2015
• Study Completion (Actual): May 1, 2015

Study Registration Dates

• First Submitted: May 13, 2015
• First Submitted That Met QC Criteria: May 13, 2015
• First Posted (Estimate): May 15, 2015

Study Record Updates

• Last Update Posted (Estimate): December 11, 2015
• Last Update Submitted That Met QC Criteria: December 9, 2015
• Last Verified: December 1, 2015

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: IRB00079788