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

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.