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.

项目摘要 贫血的特点是血液血红蛋白水平低，患病率高，影响三分之一以上的人， 世界人口约25亿。世界上超过7%的人口携带血红蛋白基因 突变导致血红蛋白变异，其中之一是镰状细胞病（SCD）。SCD影响关于 十万美国人。SCD的性状形式是镰状细胞性状，其由遗传单个拷贝的 致病基因镰状细胞性状影响多达300万美国人和8%至10%的非洲人 美国人全世界有1亿人患有镰状细胞病。另一种主要的血红蛋白变体是β- 地中海贫血，影响约1.5%的世界人口。贫血的最佳管理，β- 地中海贫血和SCD需要早期诊断和使用血液检测对患者进行监测， 血红蛋白水平和类型。例如，在美国，超过一半的SCD患者是 用羟基脲（HU）处理。定期输血通常在SCD中进行。两种药物的疗效 HU和输血反映在血红蛋白（Hb）组成的变化; HU增加了血红蛋白的比例， 胎儿血红蛋白（HbF）和输血降低了镰状血红蛋白（HbS）的比例。但目前的 监测Hb组成的方法需要将样本送到中心实验室，导致患者延迟 反馈、提供者决策和治疗修改。治疗监测和管理将 从POC测试中受益，并立即获得结果。没有FDA批准的床旁（POC）诊断 镰状细胞或β地中海贫血的设备在美国。我们把瞪羚作为第一个也是唯一一个 诊断平台，用于美国SCD、β地中海贫血和贫血的筛查和治疗监测。 在SBIR一期/二期快速通道项目阶段，我们在海外建立了制造和分销合作伙伴 并将Gazelle用于美国以外的SCD和地中海贫血检测，重点是撒哈拉以南非洲地区 和印度我们的Gazelle商业化战略一直专注于低收入全球市场，我们 我们成功地实现了这一目标，迄今为止在13个国家的销售额不断增长。下一步是商业化 在美国市场的Gazelle。第二阶段桥梁奖对我们实现这一目标是及时和关键的。 在这个SBIR第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作为第一个也是唯一一个 SCD、β-地中海贫血和贫血的集成POC诊断平台，以及 HU和输血疗法。我们将制定分销战略，发展合作伙伴，商业化，并开始 在美国销售Gazelle诊断平台。