A Point-Of-Care Device for Phenylalanine Determination
Grant Number: 1R43GM126593-01A1
Grant Agency and Type: NIH NIGMS, Phase I SBIR
Principal Investigator: Robert Harper
Disease Indication: Phenylketonuria
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. PKU is the most common disorder of amino acid metabolism, affecting 1 in 8,000 people globally. Most cases of PKU are detected shortly after birth by newborn screening. Individuals affected by PKU must monitor and control Phe levels throughout their lives to avoid neurological complications, including permanent intellectual disabilities, seizures, delayed development, behavioral problems, and psychiatric disorders. Whole blood is collected in EDTA tubes or spotted onto Dried Blood Spot (DBS) Cards by parents, patients, or caregivers. These samples are sent to laboratories for measurement by tandem mass spectrometry, and results can take days to weeks. This complicated process for monitoring and controlling Phe levels results in non-compliance, a decrease in quality of life, as well as increased healthcare costs for treating complications.
The PKU Now will provide real-time Phe levels, allowing parents and caregivers to promptly adjust their diets to help maintain optimal phenylalanine levels. In Vitro Diagnostic Systems (IVDS) has developed a prototype POC test, in which Phe can be quantified from a 20-microliter sample. “PKU Now” will be the only point-of-care testing device (POCT) that will allow the accurate measurement of L-phenylalanine (Phe) levels from a finger or heel-stick sample. The point-of-care test, the “PKU Now,” will be used as a home monitoring device for PKU patients and for diagnostic testing. The PKU Now will provide immediate feedback of whole blood Phe concentration, allowing for stricter dietary compliance, improve the quality of life, and reduce healthcare costs. In Phase I studies, we will resolve three outstanding issues before commercializing the system, namely eliminating interferences (Aim-1), eliminating hematocrit bias in the range of 32% to 60% (Aim-2), and establishing an agreement between the “PKU Now” and a laboratory reference method (Aim-3).
Results and Commercialization Status
We achieved all of our Phase I Aimed and filed for a Phase II application.
Figure 1. Shows the PKU Now test kit containing; 1 white vial (20 test strips); 1 white vial (20 capillary tubes); a capillary stand, a PKU Now Meter and 2 levels of controls
Figure 1. PKU Now test kit (Unpacked)