Gender, Diversity and Inclusion in Phenotypic and Genetic Characterisation of Acute Coronary Syndromes: Rationale and Design of the Prospective Multicentre GEDI-ACS registry

Abstract Background Despite an overall decline in cardiovascular mortality in recent years and advances in diagnosis and treatment, acute coronary syndromes (ACS) remain a leading cause of morbidity and mortality among women worldwide. Sex-specific risk factors and mechanisms remain under-recognised and complicate early diagnosis and management. Study design The GEDI-ACS Registry (PNRR-MCNT2-2023-12377431; NCT06441942) is a prospective, multicentre, non-randomised clinical study aiming to identify the phenotypic and genetic profiles of women with ACS. The study is enrolling one hundred consecutive women presenting with ACS (STEMI, NSTEMI, or unstable angina) in Northern and Southern Italy. In these patients, comprehensive clinical, imaging, biochemical and molecular phenotyping (including whole exome sequencing, transcriptomics, proteomics, and metabolomics) will be performed. Data on socioeconomic status, health literacy, and awareness of cardiovascular risk factors will be collected through standardised questionnaires. Follow-up, scheduled at one and twelve months, will assess clinical outcomes, quality of life, adherence to therapies, and lifestyle modifications. Conclusions The GEDI-ACS Registry will provide novel insights into the sex-specific profile of ACS by integrating clinical, genetic, molecular, and socioeconomic data from female patients. The results may support the development of personalised interventions that account for gender diversity.