Because rare diseases are a global issue, the Agency works closely with its international partners on the designation and assessment of orphan medicines, in particular:
the United States Food and Drug Administration (FDA), sharing information on orphan medicines under their confidentiality arrangement. The two authorities have also developed common procedures for applying for orphan designation and for submitting annual reports on the status of development of designated orphan medicines.
the Japanese Ministry for Health, Labour and Welfare (MHLW) on issues related to orphan medicines.
The Agency works with organisations representing patients with rare diseases through the European Organisation for Rare DiseasesExternal link icon (EURORDIS).
Rare diseases at a glance
Between 5,000 and 8,000 distinct rare diseases exist, affecting between 6% and 8% of the population in total – in other words, between around 27 million and 36 million people in the EU. Most people suffer from diseases affecting fewer than 1 in 100,000 people.
80% of rare diseases have identified genetic origins, and affect between 3% and 4% of births. Other rare diseases are due to degenerative and proliferative causes.
Symptoms of some rare diseases may appear at birth or in childhood, including spinal muscular atrophy, lysosomal storage disorders, patent ductus arteriosus (PDA), familial adenomatous polyposis (FAP) and cystic fibrosis. More than half of rare diseases appear during adulthood, such as renal-cell carcinoma, glioma and acute myeloid leukaemia.
Medical and scientific knowledge about rare diseases is lacking. The number of scientific publications about rare diseases continues to increase, with an average of 5 new diseases described every week in the medical literature. However, fewer than 1,000 diseases benefit from even minimal amounts of scientific knowledge. These tend to be the rare diseases that occur most frequently.