Affordable, quantitative, point-of-care microchip-electrophoresis for screening and treatment monitoring of sickle cell disease, thalassemias, and anemias

经济实惠的定量定点微芯片电泳，用于镰状细胞病、地中海贫血和贫血的筛查和治疗监测

• 批准号: 10581009
• 负责人: PETER GALEN
• 金额: $ 100万
• 依托单位: HEMEX HEALTH, INC.
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-01 至 2026-02-28
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10581009
• 关键词: Adult; Affect; Africa; Africa South of the Sahara; African American population; American; Anemia; Blood; Blood Tests; Blood Transfusion; Childhood; Clinical; Country; Decision Making; Development; Devices; Diagnosis; Diagnostic; Diagnostic Equipment; Diagnostic tests; Disease; Early Diagnosis; FDA approved; Feedback; Fetal Hemoglobin; Gene Mutation; Genes; Goals; Hematological Disease; Hemoglobin; Hemoglobin concentration result; High Prevalence; Hispanic Populations; Howard Temin Award; India; Inherited; Intrauterine Blood Transfusion; Low income; Malnutrition; Marketing; Measures; Methods; Microchip Electrophoresis; Middle Eastern; Modification; Monitor; Mutation; Patient Monitoring; Patients; Persons; Phase; Population; Prevention; Provider; Reference Standards; Sales; Sampling; Sickle Cell; Sickle Cell Anemia; Sickle Cell Trait; Sickle Hemoglobin; Small Business Innovation Research Grant; South Asian; Southeastern Asia; Testing; Thalassemia; Transfusion; United States; United States Food and Drug Administration; Validation; Variant; beta Thalassemia; commercialization; diagnostic platform; early screening; hydroxyurea; manufacture; point of care; point of care testing; point-of-care diagnostics; screening; trait; validation studies

PROJECT SUMMARY Anemia is characterized by low blood hemoglobin levels and has a high prevalence, affecting over one-third of the world's population of about 2.5 billion people. More than 7% of the world’s population carry hemoglobin gene mutations that result in hemoglobin variants, one of which is Sickle Cell Disease (SCD). SCD impacts about 100,000 Americans. The trait form of SCD is the Sickle Cell Trait, which results from inheriting a single copy of the gene that causes the disease. Sickle cell trait affects up to 3 million Americans and 8 to 10 percent of African Americans. 100 million people worldwide have sickle cell trait. Another major hemoglobin variant is β- thalassemia, which affects approximately 1.5% of the world population. Optimal management of anemias, beta- thalassemia, and SCD requires early diagnosis and monitoring of the patients using blood tests that measure hemoglobin level and type. For example, in the United States, more than half of patients living with SCD are treated with Hydroxyurea (HU). Regular blood transfusions are commonly performed in SCD. Efficacy in both HU and transfusions is reflected in changes in hemoglobin (Hb) composition; HU increases the proportion of fetal hemoglobin (HbF) and transfusions reduce the proportion of sickle hemoglobin (HbS). However, current methods to monitor Hb composition require that samples be sent to a central lab, resulting in delays in patient feedback, provider decision-making, and treatment modification. Treatment monitoring and management would benefit from POC testing with immediate results. There is no FDA-approved point-of-care (POC) diagnostic device for sickle cell or beta-thalassemia in the United States. We present Gazelle as the first and only POC diagnostic platform for screening and treatment monitoring for SCD, beta-thalassemia, and anemias in the US. In the SBIR Phase I/II Fast Track project phase, we established manufacturing and distribution partners overseas and commercialized Gazelle for SCD and thalassemia testing outside the US with a focus on Sub-Saharan Africa and India. Our commercialization strategy for Gazelle has been focused on low-income Global markets, and we have successfully achieved this goal with growing sales in 13 countries to date. The next step is to commercialize Gazelle in the US market. The Phase II Bridge award is timely and critical for us to achieve this goal. In this SBIR Phase IIB Bridge project, we plan to carry out and complete US-centric analytical and clinical validation studies for FDA 510(k) applications and commercialize Gazelle in the US as the first and only integrated POC diagnostic platform for SCD, beta-thalassemia, and anemia, as well as treatment monitoring of HU and transfusion therapies. We will create a distribution strategy, develop partners, commercialize, and start marketing the Gazelle diagnostic platform in the US.

项目概要 贫血的特点是血红蛋白水平低，患病率很高，影响了三分之一以上的人 世界人口约25亿人，超过7%的人携带血红蛋白基因。 导致血红蛋白变异的突变，其中之一是镰状细胞病 (SCD) 的影响。 100,000 名美国人的 SCD 特征是镰状细胞特征，它是由于遗传了单个细胞拷贝而产生的。 导致该疾病的基因影响了多达 300 万美国人和 8% 至 10% 的非洲人。 全世界有一亿人有镰状细胞特征，另一种主要的血红蛋白变异是β-。 地中海贫血，影响约 1.5% 的世界人口。 贫血、β-贫血的最佳治疗。 地中海贫血和 SCD 需要通过血液检测进行早期诊断和监测，以测量 例如，在美国，超过一半的 SCD 患者患有血红蛋白水平和类型。 羟基脲 (HU) 治疗通常在 SCD 中进行。 HU和输血反映在血红蛋白（Hb）成分的变化； 然而，胎儿血红蛋白（HbF）和输血会降低镰状血红蛋白（HbS）的比例。 监测 Hb 成分的方法需要将样本发送到中心实验室，从而导致患者延误 反馈、提供者决策以及治疗修改。 受益于即时结果的 POC 测试 目前尚无 FDA 批准的即时护理 (POC) 诊断。 我们在美国推出了治疗镰状细胞病或 β 地中海贫血的设备，Gazelle 是第一个也是唯一一个 POC。 在美国用于 SCD、β-地中海贫血和贫血筛查和治疗监测的诊断平台。 在SBIR I/II期Fast Track项目阶段，我们在海外建立了制造和分销合作伙伴 并将 Gazelle 商业化，用于美国以外的 SCD 和地中海贫血测试，重点是撒哈拉以南非洲地区 我们对瞪羚的商业化战略一直专注于低收入全球市场，并且我们 迄今为止，我们已经成功实现了这一目标，在 13 个国家/地区的销售额不断增长。下一步是商业化。 Gazelle 在美国市场的二期桥梁项目对于我们实现这一目标来说是及时且关键的。 在这个SBIR IIB期桥梁项目中，我们计划开展并完成以美国为中心的分析和临床 FDA 510(k) 申请的验证研究并将 Gazelle 在美国商业化，成为第一个也是唯一一个 SCD、β-地中海贫血和贫血的综合 POC 诊断平台以及治疗监测 我们将制定分销策略、开发合作伙伴、商业化并启动。 在美国营销 Gazelle 诊断平台。