HLS-Affordable, quantitative microchip-electrophoresis for sickle cell disease screening

项目摘要 镰状细胞病（SCD）影响着10万美国人和全球1400多万人， 主要是经济上处于不利地位的人口。据估计，近50-90%的儿童 在这些地区出生的SCD患者在五岁之前死亡，尽管70%可以通过 根据世界卫生组织的说法，如果早期诊断，简单，具有成本效益的治疗方法。早期 SCD的诊断在发展中国家仍然是一个挑战， 先进的实验室设备和熟练的人员;因此，一个负担得起的，准确的点， 需要进行POC诊断。我们的设备（“HemeChip”）提供了 实验室测试的产品是便携式的，负担得起的，快速，易于使用。“HemeChip”是一种 SCD筛查中使用的标准测试的小型化版本，称为醋酸纤维素 血红蛋白电泳法对SCD的诊断具有较高的敏感性和特异性 作为识别和量化最常见的血红蛋白类型-一个功能， 准确的诊断。SBIR第I/II阶段快速通道项目的目标是 HemeChip技术转化为POC平台，用于诊断血红蛋白疾病， SCD。在第一阶段，我们建议证明血红蛋白变体的鉴定和定量 对定量毛细管电泳和/或高性能液体的性能 色谱法，这被认为是黄金标准测试。第二阶段的目标和 里程碑侧重于商业化所需的活动：一次性钉仓（指/足跟- 棒）开发、设计验证和临床测试，这将使该技术定位于 监管文件。我们的目标是确保HemeChip技术能够满足 为低收入和资源不足的SCD患者提供低成本、易于使用的POC筛查平台 环境.我们提出的设备将解决通用镰刀地区的一个主要差距， 在偏远地区，细胞筛查方案缺失或无效。便携式设计， 经济实惠，快速和准确的测试，使它切实可行，第一次，有效地筛选 在非洲和印度，有大量的人患有镰状细胞病和其他血红蛋白变异。

PROJECT SUMMARY Sickle Cell Disease (SCD) affects 100,000 Americans and more than 14 million people globally, primarily in economically disadvantaged populations. It is estimated that nearly 50-90% of children born with SCD in these areas die before the age of five, although 70% could be saved through simple, cost-effective treatments if diagnosed early according to World Health Organization. Early diagnosis of SCD remains a challenge in the developing world due to requirements for sophisticated lab equipment and skilled personnel; therefore, an affordable, accurate point-of- care (POC) diagnostic is needed. Our device (“HemeChip”) provides the performance of a laboratory test in a product that is portable, affordable, rapid, and easy-to-use. “HemeChip” is a miniaturized version of the standard test used in SCD screening, known as cellulose acetate hemoglobin electrophoresis, which can identify SCD with high sensitivity and specificity, as well as identify and quantify the most common hemoglobin types – a feature that enables a more accurate diagnosis. The objective of this SBIR Phase I/II Fast-Track project is to translate HemeChip technology into a POC platform for diagnosing hemoglobin disorders, specifically SCD. In Phase I, we propose to demonstrate hemoglobin variant identification and quantification performance against quantitiative capillary electrophoresis and/or high performance liquid chromatography, which are considered to be the gold standard tests. Our Phase II aims and milestones focus on activities required for commercialization: single-use cartridge (finger/heel- stick) development, design validation and clinical testing, which will position the technology for regulatory filings. Our goal is to ensure that HemeChip technology addresses the requirements for a low-cost, easy-to-use, POC screening platform for SCD in low-income and under-resourced environments. Our proposed device will address a major gap in regions where universal sickle cell screening programs are missing or ineffective in reaching remote areas. The portable design, affordability, rapid and accurate testing makes it practical, for the first time, to effectively screen large numbers of people with sickle cell disease and other hemoglobin variants in Africa and India.