ALow Blood Volume Platform for Global Newborn Screening of Common, Treatable Conditions

ABSTRACTA Low Blood Volume Platform for Global Newborn Screening of CommonTreatable ConditionsFast Track SBIRAn estimatedof babies born worldwideapproximatelymillion each yearcurrently do not receive any newborn screening careNewborn screeningNBSis an immensely successful testing program that identifies those at increased risk for commontreatable congenital disordersthe pre symptomatic identification of these disorders in newborns enables the rapid initiation of treatments and reduces or prevents serious health consequences such as mental disabilityneurological dysfunction and premature deathWhile every child born in the U Sis tested for at leastdisordersthe overwhelming majority of children born in developing countries are not screened for even a single disorderTo help introduce newborn screening to regions lacking the infrastructure necessary to implement central laboratory based testingwe will develop a cost effectivelow to medium throughput digital microfluidic testing platformThe platform will simultaneously measure total serum bilirubinTSBglucosephosphate dehydrogenaseG PDgalactosephosphate uridyltransferaseGALTand thyroid stimulating hormoneTSHin whole blood in order to screen for hyperbilirubinemia riskG PD deficiencyclassic galactosemia and congenital hypothyroidismrespectivelyThese represent four of the most commontreatable neonatal conditions in the developing world with a combined incidence of approximatelyinThese tests will be performed on a modified cartridge and instrument that is based on our FDA authorized digital microfluidic platform for measurement of enzyme activities that are indicative of lysosomal storage disordersThe tests for TSBG PDGALT and TSH will be performed from less thanl of whole blood using disposable cartridges with a total run time of less thanhours for all assaysIn Phase Iwe will translatebiochemical assays and a novel protein immunoassayfor TSHto the digital microfluidic format and determine preliminary analytical and clinical feasibilityIn Phase IIwe will concentrate on technology modifications to the instrumentaddition of absorbance detectionand cartridgemodified layout and addition of heatersOnce a modified instrument and cartridge is developedthe TSBG PDGALT and TSH assays will be multiplexed to run on one cartridge and the analytical performance will be validatedA method comparison study will be performed to assess clinical utility againstgold standardscreening methodsThe final product will be a flexiblelow to mediumthroughput newborn screening platform suitable for use in moderate complexityhospitalsettings in developing countries that currently lack a centralized newborn screening programOnce the technology is established for our initialassay panelwe plan to expand our test offerings to cover additional time sensitive neonatal conditions PROJECT NARRATIVE Treatable conditions such as hyperbilirubinemiaG PD deficiency and congenital hypothyroidism are common around the world and contribute to higher rates of newborn mortality and morbidity in developing countriesEarlier detection of these conditions through newborn screening has the potential to drastically improve the health outcomes of newborns in countries that currently lack widespread newborn screeningThe goal of this Fast Track SBIR project is to develop and validate a distinctivelow blood volume automated platform that can perform a panel of clinical chemistryenzymatic and immunoassays for newborn screening in emergingmedium resourcemarketsThe new platform will address the need for an inexpensivescalable and distributable newborn screening platform to identify newborns at risk for hyperbilirubinemiaG PD deficiencycongenital hypothyroidism and galactosemia