Polycystic Ovary Syndrome (PCOS) is the most prevalent, chronic endocrine-metabolic disorder of adolescents and young women (AYAs), affecting 5-10% of AYAs worldwide. It is the most frequent cause of anovulatory subfertility. There is no approved therapy for PCOS. Standard off-label treatment with oral contraceptives reverts neither the underlying pathophysiology nor the associated co-morbidities Pilot studies have generated new insights into the pathophysiology of PCOS, and have thus led to the development of a new approach wherein the PCOS phenotype is reverted without side effects. The novel medication is a fixed, low-dose combination of two insulin sensitisers [Pioglitazone (Pio), Metformin (Met)] and one mixed anti-androgen and anti-mineralocorticoid (Spironolactone (Spi)] within a single tablet: SPIOMET SPIOMET4HEALTH will test, in a multicentre Phase II trial, the additive effects of each SPIOMET component, on top of lifestyle measures in AYAs with PCOS. SPIOMET aims at normalising the ovulation rate and endocrine-metabolic status via the reduction of hepato-visceral fat excess, in an early phase of the disorder. This approach is expected to reduce the risk of morbidity (including subsequent anovulatory subfertility), to improve the quality of life, and to lower the economic burden on European healthcare systems. The consortium clusters the experts from key research groups working on PCOS in AYAs, across Europe. The design of SPIOMET4HEALTH foresees that the patients themselves will be engaged over the entire timespan of the project, and will also contribute to the ultimate study evaluation. The update and validation of PCOS-specific Patient Reported Outcome Measures (PROM) will provide the first large-scale evidence on the psychosocial benefits of the tested treatments. The collective evidence from SPIOMET4HEALTH, once completed with economic modelling, will lead to conclusions that inform sound decision-making about PCOS across European healthcare systems.

The European Rare Diseases Research Alliance (ERDERA) aims to improve the health and well-being of the 30 million people living with a rare disease in Europe, by making Europe a world leader in Rare Disease (RD) research and innovation, to support concrete health benefits to rare disease patients, through better prevention, diagnosis and treatment. This Partnership will deliver a RD ecosystem that builds on the successes of previous programmes by supporting robust patient need-led research, developing new diagnostic methods and pathways, spearheading the digital transformational change connecting the dots between care, patient data and research, while ensuring strong alignment of strategies in RD research across countries and regions. Structuring goal-oriented public-private collaborations targeted at interventions all along the R&D value chain will ensure that the journey from knowledge to patient impact is expedited, thereby optimising EU innovation potential in RD. To support its ambition and missions ERDERA has been designed as a comprehensive and integrated ecosystem of which structure can be compared to an institute encompassing three main parts: (i) funding, (ii) internal (in house) Clinical Research Network that implements research activities targeting clinical trial readiness of RDs and accelerating diagnosis and translation of research discovery into improved patient care, and (iii) related supporting services (Data, Expertise, Education and Training) as well as an acceleration hub that serve external and internal RD community, all supported by all-embracing coordination and strategy and foundational (inter)national alignment.

The SHIELD project seeks to revolutionise early detection of pancreatic cancer, focusing on individuals with high heritable genetic risk. Pancreatic ductal adenocarcinoma (PDAC) has a 5-year survival rate of less than 10%, primarily due to late-stage diagnosis. Consequently, 85% of PDAC cases are identified too late for curative treatment. However, early detection can significantly improve outcomes, increasing the survival rate to 42% with surgical intervention. There is a pressing need for better early detection methods, especially for those with familial or genetic predispositions. The only FDA-approved biomarker, CA19-9, is limited to monitoring treatment response due to its lack of sensitivity and specificity, while imaging methods ofter fail to detect early-stage cancers and cause a strain to the healthcare system due to their cost and limited availability. SHIELD aims to validate a new blood-based diagnostic test designed for early PDAC detection in high-risk individuals and pilot an early detection programme in Greece, Slovenia and Lithuania. Developed by partner Reccan, this test uses a 5-plex multiple immunoassay to analyze protein readouts and provides a probability score for pancreatic cancer. Initial studies with over 450 samples showed excellent performance with >91% sensitivity and >96% specificity. The project will validate the test's clinical performance in a prospective multi-center study across seven EU countries, targeting individuals with familial or genetic predispositions. It will also identify new protein biomarkers for other high-risk indications, such as new-onset diabetes (NOD). Collaboration with national screening authorities will help integrate this test into existing programs, and partnerships with patient organizations will enhance recruitment. SHIELD envisions transforming pancreatic cancer diagnostics by increasing the 5-year survival rate to 30% by 2035 in Europe. This action is part of the Cancer Mission cluster of projects on “Prevention & early detection (early detection heritable cancers)