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 该申请是关于国家推进转化科学中心的应用 SBIR/STTR综合招标（研究优先级：解决该问题的工具和技术 快速诊断和/或稀有疾病的临床管理）。体外诊断解决方案LLC （IVDS）提出开发征收点（POC）血液测试以快速确定患者酶的提案 诊断稀有疾病的水平，腺苷脱氨酶2的缺乏（DADA2）。 DADA2是一种单基因，隐性遗传条件，导致翻译减少或不当 ADA2酶。 ADA2在血清中的全部身体作用尚未完全阐明， 但是可以证实，ADA2的缺陷导致严重至致命状况，并且高度可变 表型，包括全身血管炎，小儿和早期中风，骨髓衰竭， 和免疫缺陷。此外，由于对这种酶的兴趣增加，异常ADA2 已经研究并建议进行几种感染性的部分驱动器或生物标志物 和慢性疾病。当前，在开始时启动了ADA2活动的确定 症状，需要昂贵且耗时的实验室分析，表明 对患者和护理人员的大量燃烧。快速准确的POC测试将具有 对DADA2对DADA2的理解，诊断，管理和治疗的深远影响 广泛的治疗和经济对医疗保健行业的影响。 IVD率先 基于经济高效，便携式和易于使用的设备的通用PO​​C测试平台 确定来自手指粘，鞋跟或刺伤或 微型驾驶仪。该平台基于通过反射仪的比色检测 嵌入了一组LED面板，可覆盖当前有85％以上的比色指标 市场。测试条由1）样品扩散层组成，2）原发性血液分离 膜，3）二次血液分离膜，4）可自定义的试剂层 可以调制以提供“插件”的机会来检测其他分析物。现在 该平台现在正在我们的PKU，现在Bili，HGB现在，IVDS肝脏面板和 预分节平台（G6PD缺陷确定）。 IVD与研究直接协调 制度和非营利基础，以开发有前途的技术来改善健康和 拯救生命，具有强大的商业化潜力 - 因此与目的保持一致 这个资金机会。除了彻底改变Dada2的管理，确保这一点 资金将允许IVD支持IVDS POC平台的商业化，该平台将 对稀有疾病管理和医疗保健行业有重大影响。