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Development of a Urine Test for At-Home Monitoring of Blood Phe Levels for PKU

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: 1R41HD112228-01A1
Agency Tracking Number: R41HD112228
Amount: $295,724.00
Phase: Phase I
Program: STTR
Solicitation Topic Code: NICHD
Solicitation Number: PA22-178
Solicitation Year: 2022
Award Year: 2023
Award Start Date (Proposal Award Date): 2023-09-20
Award End Date (Contract End Date): 2024-08-31
Small Business Information
1449 Battalion Dr
Charleston, SC 29412
United States
DUNS: 964241173
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 (864) 980-7100
Business Contact
Phone: (864) 980-7100
Research Institution
CLEMSON, SC 29634-0001
United States

 Nonprofit College or University

This project proposes the development of technologies to provide low-cost monitoring of phenylalanine (Phe)
levels in the blood by a simple, noninvasive, at-home urine test, in order to enable daily monitoring by
individuals with phenylketonuria (PKU). Also known as phenylalanine hydroxylase deficiency, PKU is a rare
inborn error of metabolism that occurs in the US at a frequency of about 1 in 15,000 children. If untreated, Phe
levels in the blood stream rise to neurotoxic levels, leading to neurological damage and intellectual disability
within a few months of birth. Following detection by newborn screening, treatment involves lifelong strict
metabolic control using a low-Phe diet and medications to maintain blood Phe levels within a healthy range. If
properly controlled, normal health and development can be expected. Dried blood spot samples allow
monitoring of Phe levels, which are recommended weekly for the first five years of life and monthly thereafter.
However, blood tests for Phe typically require 5 to 10 days for lab results to be returned, thus increasing
susceptibility to unrecognized spikes in blood Phe levels. In recognition of this present problem, the National
PKU Alliance has identified the development of an at-home test for daily Phe monitoring as one of the most
pressing needs for the PKU community. In the same way that at-home glucose meters have enabled diabetics
to engage in the daily monitoring and control of their condition, an at-home meter for PKU would enable critical
control of Phe levels with the precision necessary to improve health and long-term outcomes. Members of our
team at Clemson University have recently patented technologies that enable improved sensitivity for the optical
readout of levels of a specific Phe metabolite in urine using a simple colorimetric method. This proposed
project will expand upon these achievements to produce a complete, simple, inexpensive at-home urine test
system, called the Rally Phe-nometer, to enable PKU patients to monitor their blood Phe levels on a daily basis
in a noninvasive manner. Absorbent coupons with optimized color-sensitivity will be integrated on a complete
disposable test that can be dipped into a urine sample and inserted into a low-cost meter device. This meter
will be developed by Circa Bioscience to acquire an image of the urine test coupons, perform the necessary
colorimetry measurements, and report the estimated blood Phe level to the user or caregiver. Analytical
performance of the system will be validated in Aim 1. We will also partner with the Greenwood Genetic Center,
the primary clinical facility in South Carolina for individuals with PKU, to demonstrate the correlation between
metabolite levels present in urine and blood Phe levels and to validate the clinical basis for the Rally Phe-
nometer. In addition to PKU, our innovative coupon design, combined with the increased sensitivity of the
colorimetry readout, will enable the development of at-home urine tests for monitoring a wide variety of
conditions, including other inborn errors of metabolism and kidney disease.

* Information listed above is at the time of submission. *

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