EndoCompass Project: Rare Diseases in Endocrinology

Background: Endocrine science remains underrepresented in European Union research programmes despite the fundamental role of hormone health in human well-being. Analysis of the CORDIS database reveals a persistent gap between the societal impact of endocrine disorders and their research prioritization. At national funding level, endocrine societies report limited or little attention of national research funding towards endocrinology. The EndoCompass project – a joint initiative between the European Society of Endocrinology and the European Society of Paediatric Endocrinology – aimed to identify and promote strategic research priorities in endocrine science to address critical hormone-related health challenges. Methods: Research priorities were established through comprehensive analysis of the EU CORDIS database covering the Horizon 2020 framework period (2014–2020). Expert analysis evaluated the European rare disease research landscape, including European Reference Networks, ERICA, and emerging research infrastructures to identify structural needs and opportunities. Results: Research priorities focus on leveraging established frameworks to advance rare disease research through harmonized data capture and registries; standardization of patient-centred outcome measures; development of innovative trial methodologies for small populations; enhancement of diagnostic capabilities through genomic innovation; and creation of sustainable research networks. Special emphasis is placed on bridging the gap between paediatric and adult care while fostering public-private partnerships. Conclusions: This component of the EndoCompass project provides an evidence-based roadmap for developing rare disease research infrastructure. The analysis demonstrates the need for coordinated European approaches to rare disease research, combining expertise across centres, age groups, and specialities. The findings support strategic investment in sustainable rare disease research networks.