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

项目总结 贫血的特点是血液中的血红蛋白水平低，患病率很高，影响超过三分之一的 全球约有25亿人口。世界上超过7%的人口携带血红蛋白基因 导致血红蛋白变异的突变，其中之一是镰刀细胞病(SCD)。关于SCD的影响 10万美国人。SCD的特征形式是镰刀细胞特征，这是由于遗传了 导致这种疾病的基因。镰状细胞特征影响多达300万美国人和8%至10%的非洲人 美国人。全球有1亿人具有镰状细胞特征。另一个主要的血红蛋白变体是β- 地中海贫血，影响了大约1.5%的世界人口。贫血的最佳管理，贝塔- 地中海贫血和SCD需要及早诊断并使用血液测试对患者进行监测 血红蛋白水平和类型。例如，在美国，超过一半的SCD患者是 羟基脲(HU)处理。SCD患者通常要定期输血。两种药物的疗效 HU和输血反映在血红蛋白(Hb)成分的变化上；HU增加了 胎儿血红蛋白(HBF)和输血可降低镰状血红蛋白(HBS)的比例。但是，当前 监测Hb成分的方法要求将样本送到中心实验室，导致患者延误 反馈、提供者决策和治疗修改。治疗监测和管理将 受益于PoC测试，立竿见影。没有FDA批准的护理点(POC)诊断 美国用于治疗镰状细胞或β地中海贫血的设备。我们将Gazelle作为第一个也是唯一一个POC 美国SCD、β-地中海贫血和贫血筛查和治疗监测诊断平台。 在SBIR第一期/第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 并将瞪羚商业化用于美国以外的SCD和地中海贫血检测，重点放在撒哈拉以南非洲地区 还有印度。我们对瞪羚的商业化战略一直专注于低收入的全球市场，我们 已经成功实现了这一目标，到目前为止，在13个国家和地区的销售额不断增长。下一步是将其商业化 美国市场上的瞪羚。二期大桥奖对我们实现这一目标是及时和关键的。 在这个SBIR IIB期桥梁项目中，我们计划进行并完成以美国为中心的分析和临床 FDA 510(K)应用的验证研究，并将Gazelle作为第一个也是唯一一个在美国商业化 针对SCD、β-地中海贫血和贫血的集成POC诊断平台，以及对 胡和输血疗法。我们将制定分销战略，发展合作伙伴，商业化，并开始 在美国营销Gazelle诊断平台。

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.