PheCheck™ Validation Study

Purpose

The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia. The main objective is comparing the concentration of phenylalanine (Phe) in capillary blood with the reference method (DBS).

Condition

  • Phenylketonuria (PKU) and Hyperphenylalaninemia

Eligibility

Eligible Ages
Over 1 Year
Eligible Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • 1 year or older and able to have a fingerstick blood collected - Being monitored for Phenylketonuria (classical PKU, mild PKU, variant PKU, or hyperphenylalaninemia) - Signed informed consent

Exclusion Criteria

  • Previous enrollment in the study and has completed 3 study visits - Inability to read and understand instructions

Study Design

Phase
Study Type
Observational
Observational Model
Cohort
Time Perspective
Prospective

Arm Groups

ArmDescriptionAssigned Intervention
Patients with Phenylketonuria or Hyperphenylalaninemia Device: PheCheck Test Description: Quantitative, single-use, rapid test Intended for home-based self-testing and monitoring of PKU. 1 fingerstick specimen collected at each study visit Comparator: Dried Blood Spot Cards. 1 fingerstick specimen collected at each study visit
  • Device: PheCheck
    Quantitative, single-use, rapid test Intended for home-based self-testing and monitoring of PKU. 1 fingerstick specimen collected at each study visit Sample read using an electronic reader. Results available within 1 hour
  • Diagnostic Test: Dried Blood Spot Cards.
    Laboratory-based reference method 1 fingerstick specimen at each study visit to collect 5 samples to fill 5 spots on the card. Card sent to a laboratory, results available within 72 hours

Recruiting Locations

Lurie Children's Hospital
Chicago, Illinois 60611
Contact:
Steven J Eichinger
(312) 227-8952
seichinger@luriechildrens.org

More Details

Status
Recruiting
Sponsor
Aptatek BioSciences, Inc

Study Contact

Catalina Suarez-Cuervo, MD
727-776-5880
Clinicalstudies@lumosdiagnostics.com

Detailed Description

The primary objective of this study is to evaluate the performance of the PheCheck™ test for the rapid, quantitative detection of phenylalanine (Phe) direct from a capillary (fingerstick) sample. Results will be compared to reference testing from Dried Blood Spot Cards (DBS). The PheCheck™ test performs a quantitative determination of phenylalanine in a self-collected or parent/guardian-collected capillary blood sample. The analysis will evaluate the performance of the analyte concentration of phenylalanine in prospectively collected samples self-collected and tested by patients with PKU, measured by the PheCheck™ test as compared to the standard of care DBS testing performed by a reference lab