Rare diseases: Italia plays a leading role, but there are still too many regional disparities

In Italia, it is estimated that over 2 million people are affected by rare diseases, of whom 520,000 are listed in regional registers with a rare disease exemption code in 2024, a slight increase compared with previous years (+25,000). Meanwhile, newborn screening – now extended to cover 49 conditions at birth – has enabled the early detection of 1,300 children with rare diseases. The number of Diagnostic, Therapeutic and Care Pathways, which guarantee up-to-date and standardised care for all patients, is also growing: in 2025, a further 19 were approved, bringing the total number to 361; of the 147 orphan medicines authorised by the European Medicines Agency, 140 (95.2 per cent) are available in Italy, at a cost of 2.363 billion, accounting for 8.3 per cent of total pharmaceutical expenditure. This is the picture painted by the 12th ‘MonitoRare Report’ on the situation of people with rare diseases, presented at the MonitoRare 2026 Convention, organised by Uniamo – the Italian Federation for Rare Diseases.

“As it does every year, the MonitoRare Report provides a snapshot of the system, highlighting its strengths and the progress made,” said Annalisa Scopinaro, president of Uniamo - but also unresolved issues and areas where the system still fails to provide answers for people with rare diseases and their families. It is a tool that should serve to guide the policies of all the institutional bodies involved: we need to listen to people’s needs, define structured pathways and coordinate the various local networks.”

Among the strengths, the report highlights the availability of specialist centres, widespread access to medicines and early diagnosis, confirming that Italia is among the countries best equipped to meet the needs of people with rare diseases. Among the critical issues are delays in implementing measures and significant regional inequalities.

““Italia is now the leading or second-leading country in the world in terms of the management and care of people with rare diseases,” said the Under-Secretary of State for Health Marcello Gemmato whilst speaking at the conference, “and aims to take a leading role in shaping the future European Plan for the sector”. These results have been achieved “thanks to a highly effective ecosystem in which all stakeholders collaborate”. The Under-Secretary also recalled the first National Summit on Rare Diseases, which gave rise to the “Rome Charter” – a strategic document drawn up by experts, institutions and associations, intended to represent Italia’s contribution to the European debate. “During the Summit, we also received significant recognition from Eurordis,” he added, “which invited us to take a leading role in shaping the new European Plan on rare diseases. For this reason, we will take the Rome Charter to Brussels as Italia’s position paper to help guide future European policies.”

Meanwhile, the government is working on the forthcoming 2026–2029 Plan, which must address “the critical issues that have emerged in recent years and further strengthen the system, starting with regional inequalities in the care of people with rare diseases”. For Gemmato, the disparities that exist in healthcare – and in particular regarding rare diseases – between the North and the South, and even between health authorities within the same region, “are unacceptable: the National Plan must serve precisely to bridge these gaps, including through the use of telemedicine”.