In Italy there are over two million people with a rare disease, around 300 million worldwide

Our country's main institutions and health stakeholders, testifying to the fact that rare diseases are an important topic for all parts of the system, delved into the topic by talking about health planning, technology assessment (Hta), neonatal screening, horizon scanning, regional access and the role of territorial presidia in drug distribution.

"Rare Disease Day is now in its 19th edition," recalled Uniamo President Annalisa Scopinaro, "Five years ago we began an ideal journey through which to mark the pathway of our people in their approach to the disease: from the diagnostic pathway to holistic care, passing through the need for in-depth research. This year's Day focuses on fair, timely and homogeneous access to non-pharmacological therapies and treatments'.

Only 5% of rare diseases have a specific drug treatment, almost never a cure. There are different times of access to drugs at regional level, and if the diseases are underdiagnosed, the times are even longer. For most rare diseases, rehabilitation treatments, speech therapy, psychomotricity, psychological support, medical devices, are the only way to significantly improve the quality of life of patients and their families. Law 175/2021 established the right to these treatments, which should be provided continuously and uniformly throughout the country.

"Italy has approved 146 orphan drugs out of the 155 authorised by Ema, which means 94.2% of the total: a figure that puts us in second place in Europe after Germany. Our country is a point of reference for the management of rare diseases in the EU, but there are still several margins for improvement on which to work in a systemic perspective, including without a doubt the simplification of access through more streamlined procedures and increasingly efficient territorial distribution.

Finally, research, for which further strengthening is needed,' explained Health Undersecretary with responsibility for rare diseases Marcello Gemmato. He recalled, however, the first place on the neonatal screening front: 'With the updating of the Essential Levels of Care, we have included the test for Sma and for 8 new rare diseases, confirming Italy's primacy in the world, and this is something to which the majority and the opposition contribute across the board'.

"We have a duty to support every tool that can make a difference in the lives of people with rare diseases: innovative drugs but also medical devices and cutting-edge diagnostic technologies, which sometimes represent the only therapeutic answer. Supporting this supply chain of Made in Italy excellence means growing as a country-system and putting innovation at the service of citizens' real needs'. These are the comments of Undersecretary Fausa Bergamotto from Mimit.

He widened his gaze to the added value brought by businesses: 'Encouraging investments in the biomedical and pharmaceutical sector by supporting new drugs but also by accelerating the spread of the use of high-tech diagnostic products and medical devices represents one of the guidelines of the Ministry of Business and Made in Italy, which,' he emphasised, 'has also identified in the Made in Italy 2030 White Paper the Economy of Health, including pharmaceuticals and devices, as one of the strategic sectors of industrial and national policy.

Thanks to economic incentives designed for rare diseases (see the European Regulation on Orphan Drugs) and the commitment of many companies and researchers, we are seeing the development of advanced and innovative therapies, as well as high-tech medical devices and digital therapies. With Drug Repurposing we give new life to drugs already in use. The points of attention today are the economic sustainability of all this and the ways in which we make innovation available across the board and simultaneously throughout Italy.

Our country is now second in Europe for the number of drugs available after EMA approval.

This is a record that should not be underestimated. Some improvement can be made on approval times, especially if they concern drugs for completely orphan or severely degenerative diseases. Aifa President Robert Nisticò expressed himself on this issue: 'As Aifa we are called upon to bring innovation to the patient, accelerating the availability of the most promising drugs.

But we must also adopt new and more flexible models to evaluate incoming therapies and recognise their real added value. In this perspective, the evaluation cannot be limited to the cost, which is almost always very high, of these products, but must take into account the overall impact on health systems and thus, for example, the savings that a 'breakthrough' drug can generate in terms of lower expenditure on health and welfare services. This is why I believe it is very useful to be able to count on solid data shared with the regions and on continuous and fruitful dialogue with patient associations'.

The speed of access to drugs and/or other treatments is dependent on a definite and incontrovertible diagnosis. Efforts must therefore also focus on reducing the diagnostic time, which is still over four years on average. A key pillar is Extended Neonatal Screening.

Updating the national panel, however, is not timely; the regions activate pilot projects whenever possible, but situations arise in which being born in one place instead of another can lead to a completely different life.

The Director General of the Istituto Superiore di Sanità, Andrea Piccioli, commented on the update of the Sne panel: 'Extensive neonatal screening is a unique programme at the international level, which guarantees all children born in Italy equal access to the early diagnosis of around 50 genetic diseases.

The Neonatal Screening Coordination Centre, set up at the Istituto Superiore di Sanità, has the task of ensuring homogeneous implementation of the programme throughout the country and producing the necessary evidence to overcome territorial inequalities.

Periodic updating of the disease panel is essential to ensure clinical appropriateness and maximum benefit for the population and requires a process based on sound science and continuous monitoring, attentive to equity of access, clinical quality and sustainability of the system'.

'People with rare diseases need holistic care that includes what is necessary to improve their quality of life. Dedicated funding is also needed for the facilities that take care of them, precisely to ensure multidisciplinary teams and visit times that go beyond the normal.

Even for rehabilitation treatments, one cannot 'average out' but give to each person according to his or her need, as the criterion of fairness demands,' finally warned Paola Facchin, Interregional Rare Disease Technical Table Coordinator, who dwelt on the issues of taking charge and customising non-pharmacological treatments.