ADA2 Diagnostic Platform: Point-of-care test for determination of patient enzyme levels for diagnosis of the rare disease Deaminase2 Deficiency (DADA2)

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Abstract This application is in regard to the National Center for Advancing Translational Sciences SBIR/STTR Omnibus Solicitation (Research Priority: Tools and technologies that address the rapid diagnosis and/or clinical management of rare diseases). In Vitro Diagnostic Solutions, LLC (IVDS) proposes to develop a point-of-care (POC) blood test to rapidly determine patient enzyme levels for the diagnosis of the rare disease, deficiency of adenosine deaminase 2 (DADA2). DADA2 is a monogenic, recessive genetic condition that leads to reduced or improper translation of the ADA2 enzyme. The full physiological role of ADA2 in serum has yet to be fully elucidated, but it is confirmed that deficiencies in ADA2 result in a severe to fatal condition with highly variable phenotypes including systemic vasculitis, pediatric and early-onset stroke, bone marrow failure, and immunodeficiency. Furthermore, due to increased interest in this enzyme, abnormal ADA2 activity has been investigated and suggested as a partial driver or biomarker for several infectious and chronic diseases. Currently, determinations of ADA2 activity are initiated upon the onset of symptoms and require expensive and time-consuming laboratory analysis, presenting a significant burden on patients and care takers. A rapid and accurate POC test would have a profound impact on the understanding, diagnosis, management, and treatment of DADA2 with broad therapeutic and economic impacts on the healthcare industry. IVDS has pioneered a universal POC testing platform based on a cost-effective, portable, and simple-to-use device for determining accurate concentrations of analytes in whole blood from a finger-stick, heel-stick, or microtainer draw. The platform is based on colorimetric detection via a reflectance meter embedded with a panel of LEDs chosen to cover over 85% of colorimetric indicators currently on the market. Test strips consist of 1) a sample spreading layer, 2) a primary blood separation membrane, 3) a secondary blood separation membrane, and 4) a customizable reagent layer that can be modulated to provide “plug-and-play” opportunities for detecting other analytes. Currently this platform is being implemented in our PKU Now, Bili Now, Hgb Now, the IVDS Liver Panel and the PreQuine Platform (G6PD deficiency determination). IVDS cooperates directly with research institutions and non-profit foundations to develop promising technologies that improve health and save lives, with a strong potential for commercialization - thus aligning excellently with the purpose of this funding opportunity. Beyond revolutionizing the management of DADA2, securing this funding will allow IVDS to support the commercialization of the IVDS POC platform which will have a substantial impact on rare disease management and the healthcare industry.