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

ADA2 诊断平台：用于测定患者酶水平的即时检测，以诊断罕见疾病脱氨酶 2 缺乏症 (DADA2)

• 批准号: 10698520
• 负责人: Robert Harper
• 金额: $ 30万
• 依托单位: ANALYTICAL DIAGNOSTIC SOLUTIONS, INC.
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10698520
• 关键词: Address; Affect; Age; Agreement; Biological Assay; Biological Markers; Biosensor; Blinded; Blood; Blood Tests; Blood specimen; Bone marrow failure; Caring; Cause of Death; Childhood; Chronic Disease; Clinical; Clinical Management; Communicable Diseases; Consumption; Deaminase; Detection; Development; Devices; Diagnosis; Diagnostic; Diagnostic Equipment; Disease; Disease Management; Dose; Enzymes; Fingers; Foundations; Funding; Funding Opportunities; Genetic Screening; Glucosephosphate Dehydrogenase Deficiency; Hand; Health; Healthcare Industry; Heel; Home; Immunologic Deficiency Syndromes; Individual; Infection; Institution; Laboratories; Liver; Marketing; Measures; Membrane; Metabolic Diseases; Molds; National Center for Advancing Translational Sciences; Onset of illness; Outcome; Patients; Performance; Phenotype; Physiological; Play; Protein Isoforms; Rare Diseases; Reagent; Recessive Genetic Conditions; Recombinants; Recurrence; Reporting; Research; Research Priority; Role; Sampling; Secure; Serum; Small Business Innovation Research Grant; Small Business Technology Transfer Research; Stroke; Symptoms; Technology; Testing; Therapeutic; Time; Translations; Validation; Vasculitis; Venous; Whole Blood; Writing; adenosine deaminase; adenosine deaminase deficiency; assay development; autoinflammatory diseases; autosome; commercialization; cost; cost effective; diagnostic platform; early onset; economic impact; enzyme activity; experience; improved; in-vitro diagnostics; inhibitor; interest; manufacture; meter; performance tests; point of care; point of care testing; portability; rapid diagnosis; remote monitoring; response; test strip; tool; treatment strategy

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.

抽象的 本申请涉及国家转化科学促进中心 SBIR/STTR 综合征集（研究重点：解决以下问题的工具和技术 罕见疾病的快速诊断和/或临床管理）。 (IVDS) 提议开发一种即时检测 (POC) 血液测试，以快速确定患者的酶 用于诊断罕见疾病腺苷脱氨酶 2 (DADA2) 缺乏症的水平。 DADA2 是一种单基因隐性遗传条件，会导致翻译减少或不正确 ADA2 酶在血清中的完整生理作用尚未完全阐明， 但已证实 ADA2 缺陷会导致严重到致命的情况，且病情变化很大 表型包括系统性血管炎、儿童和早发性中风、骨髓衰竭、 此外，由于对这种酶的兴趣增加，ADA2 异常。 活动已被调查并建议作为几种传染性的部分驱动因素或生物标志物 目前，ADA2 活性的测定是在疾病发作时开始的。 症状并需要昂贵且耗时的实验室分析，提出 快速、准确的 POC 测试会给患者和护理人员带来重大负担。 对 DADA2 的理解、诊断、管理和治疗产生深远影响 IVDS 对医疗保健行业产生了广泛的治疗和经济影响。 通用 POC 测试平台，基于经济高效、便携式且易于使用的设备 通过指尖采血、足跟采血或采血测定全血中分析物的准确浓度 该平台基于通过反射计的比色检测。 嵌入 LED 面板，覆盖目前超过 85% 的比色指示器 市场上的测试条由 1) 样品铺展层、2) 初级血液分离层组成。 膜，3) 二级血液分离膜，以及 4) 可定制的试剂层， 目前可以进行调制以提供“即插即用”的机会来检测其他分析师。 该平台正在我们的 PKU Now、Bili Now、Hgb Now、IVDS Liver Panel 和 PreQuine 平台（G6PD 缺乏症测定）直接与研究合作。 机构和非营利基金会开发有前景的技术，改善健康和 拯救生命，具有强大的商业化潜力 - 从而与目标完美契合 除了彻底改变 DADA2 的管理之外，还要确保这一融资机会。 资金将使 IVDS 支持 IVDS POC 平台的商业化，这将 对罕见病管理和医疗保健行业产生重大影响。