For seventeen years, World Rare Disease Day has been celebrated on February 29th (28th in leap years): the event, now of international scope, is aimed at raising public awareness and increasing awareness of all pathologies rare, so the diseases that affect 1 in 2 thousand individuals.
Among the main causes concerning rare pathologies we find genetic mutations, chromosomal alterations, infectious agents, allergic reactions, degenerative processes and neoplastic-type proliferative processes.
In the world, there are more than 300 million people living with a rare disease: in Italy there are around 3 million, of which 1 in 5 is a child. 25 percent of them wait from 5 to 30 years to receive confirmation of a specific diagnosis. Furthermore, there are also rare diseases without a diagnosis, so pathologies that have never received a certain and precise diagnosis:
-
Diseases still “undiagnosed”, which have not yet managed to reach a precise diagnosis due to common or misleading symptoms;
-
Diseases that are still “undiagnosable”, as the disease has not yet been described or the cause has not been identified.
This context underlines the need to invest in Research:
Much can still be done for Research if the European Commission’s policy is able to attract the investments and skills of pharmaceutical companies through a modern and competitive regulatory framework that enhances intellectual property rather than weakening it. Knowing how to also attract new financial capital and industrial investments. Just as progress is possible for screening, prevention, early diagnosis, treatment and continuous assistance. Objectives that are well identified in the National Plan for Rare Diseases 2023-2026. The real challenge now is its rapid implementation to guarantee fast and homogeneous access to available therapies across the territory. Pharmaceutical companies will continue to do their part, investing in research and production, to provide increasingly effective answers and new hopes of treatment for citizens, the majority of whom are children, suffering from a rare pathology.Marcello Cattani, President of Farmindustria
Cattani also comments on the state of development and production of drugs for Rare Diseases:
Almost 180 drugs have been approved for rare diseases by the European Medicines Agency (EMA) between 2002 and 2023, thanks also to the European Regulation on orphan drugs and the protection of intellectual property guaranteed so far. With a positive impact on the health and lives of 6.3 million people with rare diseases in Europe. And there are over 1,800 in development around the world – 30% of the total – in particular for rare tumors, rare neurological and gastrointestinal pathologies. Medicines that open new treatment horizons for the 350 million patients globally. Important results, the result of increasingly technological and innovative pharmaceutical research. But they are a starting point: only 5% of rare diseases have an approved treatment, because their rarity makes the R&D of new therapies complex.
