Rare diseases, clinical research slows down and newborn screening stopped 9 years ago

The availability of orphan drugs in Italy is increasing, as is consumption, but - after the growth observed until 2021 when the peak of 260 trials was reached - the reduction in the number of authorised clinical trials on rare diseases out of the total number of clinical trials continues, amounting to 163 in 2024, i.e. 27.1% of the total. Moreover, territorial inhomogeneities remain profound, especially those concerning the distribution of centres participating in the European reference networks (ERNs): seven of the Regions and Provinces do not even have one. These data have an impact on the approximately 2 million patients with rare diseases in Italy, who despite being a 'best practice' country from the point of view of regulations and screening guaranteed from 2023 throughout the country, still suffer from differences in access to diagnosis and treatment, as witnessed by the data on health mobility, especially of minors with exempt rare diseases.

It is a picture of lights and shadows that emerges from the Uniamo Federation's 11th MonitoRare Report on the condition of people with rare diseases in Italy, presented in Rome. And it urges us to 'do more', starting with supporting research activities, as President Annalisa Scopinaro explained: 'Our Report offers the opportunity to reflect, data in hand, on the chiaroscuros of the system that has been created in these 26 years. We need to analyse well what works less well in order to be able, all together and in a network, to act to improve the quality of life of people with rare diseases, overcoming difficulties and coordinating ourselves better'. A line partially espoused in the comments of the undersecretary for health with responsibility for rare diseases Marcello Gemmato: 'Italy,' he emphasised, 'is an international reference point in the field of rare diseases: second in the world and first in Europe for the quality of care and treatment. In this context, we welcome with satisfaction what emerges from the 11th MonitoRare Report; it is encouraging to see that critical points are being implemented, we are going in the right direction even if there is still a long way to go. The strengthening of the Innovative Medicines Fund is also to be welcomed in this regard. However,' admits Gemmato, 'important challenges remain, first and foremost territorial inequality: on this we are working with the regions to build shared pathways that will standardise access to therapeutic innovations and make assistance truly homogeneous, with fast times and quality everywhere.

As mentioned, the reduction of authorised clinical trials on rare diseases out of the total number of clinical trials continues. Research projects on rare diseases involving Italian research groups are slightly less than one tenth of the total number of research projects on rare diseases included in the Orphanet platform.

In order to increase studies and open up more to clinical trials, according to Uniamo an attractive system must be created, consisting of a network of bodies, institutions and professionals capable of creating communication and planning over the years and, above all, investment. On this last point,' the Federation notes, 'the call just launched by Aifa, entirely dedicated to research on rare diseases for a total of 17.8 million, is to be appreciated. "With the new calls for independent research on rare diseases, Aifa starts a structural intervention to support non-profit studies on orphan drugs and innovative therapies. This is an important step to promote innovation, equity, and access to treatment," commented Armando Magrelli, Head of Aifa's Independent Research Office.

"Red card", finally, for the lack of approval of the implementation decrees of Law 175/2021 on rare diseases: in particular, those on the social solidarity fund and tax incentives for research are missing. Two crucial issues, on which the community of people with rare diseases has been waiting for answers from politics for at least three years.