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

DESCRIPTION provided by applicant Point of birth newborn screening for MCAD VLCAD and galactosemia to eliminate deadly delays for time critical conditions PA 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 disorders FAOs and galactosemia These disorders are inborn errors of metabolism that have profound neurological and hypoglycemic effects if not detected early Although these disorders are included in traditional newborn screening with a multi day turnaround infants still die due to the andquot deadly delaysandquot inherent to the system of transporting dried blood spots to a central laboratory Confirmation of a diagnosis of common FAOs by enzymatic or molecular analysis can take months leaving families in a stressful position of uncertainty Point of care testing by enzyme activity is critical to address these issues As of yet there is not a single point of care newborn screening technology available for biochemical screening or diagnostic confirmation Baebiesandapos digital microfluidic platform is a recognized innovative affordable automated microdroplet based liquid handling system that can be configured to address this challenge The digital microfluidic technology enables miniaturization of assays and significantly reduces reagent and sample volumes while providing timely data to guide clinical intervention Baebies is guided by a vision that every newborn deserves a healthy start Baebiesandapos current product is for a laboratory setting and has been in use for over years in the state of Missouri for the first ever newborn screening pilot study of multiple lysosomal storage disorders in the United States The proposed point of birth POB newborn screening platform utilizes the same underlying digital microfluidic technology and aims for a time to result of minutes so that prompt treatment through a controlled feeding schedule can be initiated The project objective is to demonstrate technical feasibility of using digital microfluidics to detect medium chain acyl CoA dehydrogenase MCAD deficiency very long chain acyl CoA dehydrogenase VLCAD deficiency and galactosemia in whole blood samples for improved newborn screening at the point of birth The Phase I specific aims include biochemistry development of the assays on whole blood samples integration and analytical validation of the multiplexed panel and preliminary method comparison using blood samples from newborns at the University of Pittsburgh In Phase II we will complete hardware development of the point of birth platform complete development of a self contained cartridge and perform a pilot study for method comparison The point of birth platform will have the ability to expand to other time critical conditions in the future PUBLIC HEALTH RELEVANCE Point of birth newborn screening for MCAD VLCAD and galactosemia to eliminate deadly delays for time critical conditions PA Baebies is guided by a vision that every newborn deserves a healthy start irrespective of the socio economic status and geographic location Point of birth testing has the potential to overcome slow turnaround times for time critical conditions including MCAD VLCAD and galactosemia MCAD VLCAD and galactosemia are inborn errors of metabolism that have profound neurological and hypoglycemic effects if not detected early The current newborn screening NBS paradigm relies on bloodspot screening with a multi day time to result where the delay can be deadly in disorders where the timing and type of nourishment intake can cause significant harm The proposed point of birth POB newborn screening platform aims for a time to result of minutes so that prompt treatment with a corrective diet can be initiated