Development of a commercial kit for neonatal screening of primary immunodeficiencies

• Grant number: 22/01693-9
• Support Opportunities: Research Grants - Innovative Research in Small Business - PIPE
• Start date: July 01, 2022
• End date: December 31, 2023
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Agreement: FINEP - PIPE/PAPPE Grant
• Principal Investigator: Antonio Condino Neto
• Grantee: Antonio Condino Neto
• Company: Immunogenic Assessoria e Diagnóstico em Saúde Ltda - EPP
• CNAE: Pesquisa e desenvolvimento experimental em ciências físicas e naturais ; Atividades de atenção à saúde humana não especificadas anteriormente
• Principal investigators: Edgar Borges de Oliveira Junior
• Associated research grant: 17/10089-0 - Improvement and innovations applied to the detection and monitoring of immunopathologies and cancer, AP.PIPE

Abstract

Primary immunodeficiencies (PIDs) are a group of heterogeneous diseases that manifest early in life in the form of recurrent severe infections, autoimmunity, autoinflammation, severe allergy, or susceptibility to cancer. The purpose of neonatal screening is to identify asymptomatic newborns with potentially serious or life-threatening conditions that are treatable, resulting in a significant reduction in morbidity and mortality. Our research group is a pioneer in the development of the newborn screening test (heel test) for inborn errors of immunity (EII), with emphasis on Severe Combined Immunodeficiency (SCID) and Agammaglobulinemia, respectively through the analytes TRECs (T cell receptor excision circles) and KRECs (K deleting receiver excision circles). It is the result of research and development experience over 10 years and around 200,000 tests carried out, including 4 pilot projects, and the provision of real-life services to Instituto Jô Clemente and the Municipal Health Department of São Paulo, which expanded neonatal screening to more than 50 diseases since December 2020. We highlight the approval of Law 14,154 of May 26, 2021 (https://www.in.gov.br/web/dou/-/lei-n-14.154 -de-26-de-maio-de-2021-322209993) , which increases from 6 to 50 the diseases screened using the heel prick test (https://www.sbp.com.br/imprensa/detalhe/nid/ sanctioned-the-law-that-regulates-the-application-of-test-do-pezinho-ampliado-no-sus/), with mandatory implementation in the next 3 years, throughout Brazilian territory, a future demand of about 2 .5 million tests annually. Immunogenic is a spin-off of the Laboratory of Human Immunology of the Institute of Biomedical Sciences at USP, specialized in the diagnosis of immunological diseases, with emphasis on neonatal screening tests. It is a pioneer in the implementation of neonatal screening for EII in Brazil, having developed its own technology based on academic research. Considering the significant increase in demand for in-house tests, we are faced with the need to develop a kit to detect TRECs and KRECs, based on our in-house method, developed and parameterized in the DNA of Brazilian children. The objective of this project will be to develop a kit for the detection of TRECs and KRECs, aiming at the detection of EII through the heel prick test, aiming to supply the Brazilian market and meet future public health demand in Brazil, mandatory by law. (AU)