Rare diseases: Italia leads the way in Europe. Schillaci: the Rome Charter looks to the future

To ensure that every person with a rare disease in Europe has equal access to healthcare, regardless of the country in which they live. This is the ambition of the ‘Rome Charter on Rare Diseases’, the policy document through which Italia is seeking to promote strategies within the EU for ‘innovation in governance and processes’ in this field. In our country alone, we are talking about 2 million patients grappling with daily difficulties: from endless waits for a diagnosis to gaps in the care network, which has nevertheless been strengthened in recent years thanks to the 2021 Consolidated Act on Rare Diseases and the 2023–2026 National Plan, funded with €50 million. But much remains to be done, both in Italia and across Europe.

This is the subject of discussion in Rome at the two-day “Stati generali” conference (15 and 16 June) – chaired by the Undersecretary of State for Health Marcello Gemmato – which brings together institutions, researchers, industry and patients. The “Rome Charter” is intended as a platform for a European Action Plan for rare diseases, which is still lacking. “We want to exercise leadership at European level,” says 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.”

“The Rome Charter, which Italia is making available to Europe, 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,” notes Health Minister Orazio Schillaci in the Preface to the Charter. A “structured cooperation” based on shared infrastructure and interoperable data, capable of responding to the needs of Europe’s 30 million patients with rare conditions: this is what Italia is therefore proposing, setting out priorities such as extended neonatal screening, a structured network for public-private research and collaboration, and common standards for innovation and clinical trials. Meanwhile, on the care front, there is a need for more ‘digital’ solutions, shared mechanisms for patient management and continuity in care pathways.

Screening and the availability of treatments are among the first achievements Italia can showcase in Europe: as the Ministry explains, newborns are now screened at birth for the early diagnosis of 40 conditions – a figure set to rise to 49 following the update to the Essential Levels of Care. Another ‘medal’ goes to orphan drugs: of the 147 authorised by the European Medicines Agency, 140 are available in Italia, over 70% of which are covered by the NHS. Even today, however, rare diseases remain a major challenge for scientific and pharmaceutical research: “Only 5% of the estimated 10,000 orphan diseases have an approved treatment,” Gemmato points out. “We need to provide answers for the remaining 95%, and they must be consistent.” Farmindustria President Marcello Cattani emphasises the urgency of more appropriate care, achieved through teamwork that supports innovation: “In rare diseases, time is a decisive factor,” he warns, “promoting early diagnosis, ensuring continuity of care and making the most of real-world data means tangibly improving the lives of patients and their families. Research,’ he points out, ‘is demonstrating extraordinary commitment: over 30% of the global pipeline in the sector, amounting to more than 7,700 Research and Development projects, is focused on new treatments for the 350 million people worldwide living with a rare condition. And over the past 12 years, the pharmaceutical industry has more than doubled the number of diseases we are able to target with medicines, now numbering almost 800. Only through a strategic alliance between institutions, regulatory bodies, the scientific community, businesses and patients can we make Italia increasingly attractive for bringing treatments to where they do not yet exist and improving the quality of life for millions of people.
Annalisa Scopinaro, President of the Federation for Rare Diseases (Uniamo), summarises three priorities for patients in Italia: “First of all, we need to reduce diagnosis times, because cutting them from five to four years is not enough; secondly, the National Plan for Rare Diseases must be re-funded so that all regions can provide adequate care through multidisciplinary teams; finally, every orphan disease must be classified using the European Orpha Code, which allows all patients to be identified, preventing them from ‘disappearing’ from the care pathway, for example during the transition from paediatric to adult care.”