Point-of-birth newborn screening for MCAD/VLCAD and galactosemia to eliminate deadly delays for time critical conditions

We aim to revolutionize the traditional newborn screening paradigm by developing a point of care digital microfluidic platform for biochemical screening of fatty acid oxidation disordersFAOsand galactosemiaThese disorders are inborn errors of metabolism that have profound neurological and hypoglycemic effects if not detected earlyAlthough these disorders are included in traditional newborn screening with a multi day turnaroundinfants still die due to thedeadly delaysinherent to the system of transporting dried blood spots to a central laboratoryConfirmation of a diagnosis of common FAOs by enzymatic or molecular analysis can take monthsleaving families in a stressful position of uncertaintyPoint of care testing by enzyme activity is critical to address these issuesAs of yet there is not a single point of care newborn screening technology available for biochemical screening or diagnostic confirmationBaebiesdigital microfluidic platform is a recognized innovativeaffordableautomated microdroplet based liquid handling system that can be configured to address this challengeThe digital microfluidic technology enables miniaturization of assays and significantly reduces reagent and sample volumes while providing timely data to guide clinical interventionBaebies is guided by a vision that every newborn deserves a healthy startBaebiescurrent product is for a laboratory setting and has been in use for overyears in the state of Missouri for the first ever newborn screening pilot study of multiple lysosomal storage disorders in the United StatesThe proposed point of birthPOBnewborn screening platform utilizes the same underlying digital microfluidic technology and aims for a time to result ofminutes so that prompt treatment through a controlled feeding schedule can be initiatedThe project objective is to demonstrate technical feasibility of using digital microfluidics to detect medium chain acyl CoA dehydrogenaseMCADdeficiencyvery long chain acyl CoA dehydrogenaseVLCADdeficiency and galactosemia in whole blood samples for improved newborn screening at the point of birthThe Phase I specific aims include biochemistry development of the assays on whole blood samplesintegration and analytical validation of the multiplexed paneland preliminary method comparison using blood samples from newborns at the University of PittsburghIn Phase IIwe will complete hardware development of the point ofbirth platformcomplete development of a self contained cartridgeand perform a pilot study for method comparisonThe point of birth platform will have the ability to expand to other time critical conditions in the future