ENDO-ERN ON RARE ENDOCRINE CONDITIONS: Endo-ERN in its fifth year: a pinch of care, science, curiosity and new horizons

Rare diseases are complex health entities with low prevalence (by the European definition less than 1 in 2000 people); some are so rare that only a few patients suffer from the condition in a whole region. In Europe, it is estimated that more than 7000 distinct rare diseases affect 6–8% of the population. Thus, only specially constructed and nationally endorsed combined efforts could address the challenges regarding that type of special health care management. During the past years, with the active involvement of clinical scientists as well as that of patients’ advocates, the European Commission (EC) has recognized the unmet long-term needs of patients with rare diseases. The EC adopted the 2011/24/EU directive on cross-border health care and launched large-scope programs aiming at standardized care and improvement in research and education.

These programs started with the active participation of health care providers (HCPs) endorsed in national expert reference centers for different types of rare diseases. HCPs with national endorsement for expertise in specific rare conditions were candidates to join a new initiative for virtual European Union (EU) networks of reference centers, the European Reference Networks (ERNs). Following a rigorous selection process, the first 24 ERNs were launched in 2017, involving more than 900 highly specialized healthcare units from over 300 HCPs situated in 26 EU member states. Their structure, mission and scope varied primarily according to the nature, the unmet needs, the targeted age groups of patients and other features of the disease/group of diseases.