Italy Charts European Strategy for Rare Diseases with Rome Charter, as MonitoRare Report Reveals Progress and Persistent Regional Gaps
Key Insights
Italy's "Rome Charter on Rare Diseases (search)" aims to establish a European Action Plan ensuring equal healthcare access for 30 million rare disease patients across the EU.
The 12th MonitoRare Report shows over 2 million Italians affected by rare diseases (search), with 140 of 147 EMA-approved orphan medicines (search) (95.2%) now available in the country.
Newborn screening now covers 49 conditions and has enabled early detection of 1,300 children, while 361 Diagnostic, Therapeutic and Care Pathways have been approved.
Italy is positioning itself at the forefront of European rare disease policy with the unveiling of the "Rome Charter on Rare Diseases (search)," a strategic document designed to serve as the foundation for a long-awaited European Action Plan. The Charter, presented during the two-day "Stati generali" conference in Rome on June 15–16, brings together institutions, researchers, industry representatives, and patient organizations under the chairmanship of Undersecretary of State for Health Marcello Gemmato.
The ambition is clear: to ensure that every person with a rare disease in Europe has equal access to healthcare, regardless of the country in which they live. "We want to exercise leadership at European level," said Gemmato, "and it comes naturally to us: my counterparts in other EU countries are always asking us to share our best practices on rare diseases (search)."
Health Minister Orazio Schillaci, in the Preface to the Charter, emphasized that the document "looks beyond the national level and contributes to the debate on the future of policies in this area, promoting a shared vision based on cooperation, the development of expertise and the strengthening of collaborative networks." The Charter proposes structured cooperation built on shared infrastructure and interoperable data, capable of responding to the needs of Europe's 30 million patients with rare conditions.
Among the priorities outlined are extended neonatal screening, a structured network for public-private research and collaboration, common standards for innovation and clinical trials, shared mechanisms for patient management, and continuity in care pathways through digital solutions.
Italy's Leading Role Validated by MonitoRare Data
The policy push is backed by concrete data from the 12th "MonitoRare Report," presented at the MonitoRare 2026 Convention organized by Uniamo – the Italian Federation for Rare Diseases (search). The report estimates that over 2 million people in Italy are affected by rare diseases, with 520,000 listed in regional registers holding a rare disease exemption code in 2024, a slight increase of 25,000 compared with previous years.
Newborn screening, now extended to cover 49 conditions at birth, has enabled the early detection of 1,300 children with rare diseases (search). The number of Diagnostic, Therapeutic and Care Pathways (PDTAs) continues to grow: in 2025, a further 19 were approved, bringing the total to 361 standardized care pathways.
On the therapeutic front, of the 147 orphan medicines (search) authorized by the European Medicines Agency (search), 140 – representing 95.2 percent – are available in Italy, at a cost of €2.363 billion, accounting for 8.3 percent of total pharmaceutical expenditure.
"Italy is now the leading or second-leading country in the world in terms of the management and care of people with rare diseases (search)," Gemmato stated at the conference, adding that the country "aims to take a leading role in shaping the future European Plan for the sector." He attributed these results to "a highly effective ecosystem in which all stakeholders collaborate."
Annalisa Scopinaro, president of Uniamo, described the MonitoRare Report as providing "a snapshot of the system, highlighting its strengths and the progress made – but also unresolved issues and areas where the system still fails to provide answers for people with rare diseases (search) and their families." She stressed that the report "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."
Regional Disparities and the 2026–2029 National Plan
Despite the progress, significant challenges remain. The MonitoRare Report highlights delays in implementing measures and substantial regional inequalities as critical issues. Gemmato described the disparities between the North and the South, and even between health authorities within the same region, as "unacceptable."
Work is already underway on the forthcoming 2026–2029 National Plan, which follows the 2023–2026 National Plan funded with €50 million. The new plan 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 (search)," Gemmato said, emphasizing that "the National Plan must serve precisely to bridge these gaps, including through the use of telemedicine."
During the Summit, Italy also received recognition from Eurordis (search), the European rare disease patient organization, which invited the country to take a leading role in shaping the new European Plan on rare diseases (search). "For this reason, we will take the Rome Charter to Brussels as Italy's position paper to help guide future European policies," Gemmato confirmed.