Rare diseases, Italy is a two-speed country
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In the face of “an ambitious National Plan 2023-2026 which arrived after 3 years of work and which must now be implemented” the Italian system that revolves around rare diseases “is an excellence in Europe, which travels at two speeds”. This is what emerges from the IX MonitoRare Report on the condition of people with rare diseases in Italy, presented in Rome by Uniamo-Italian Federation of Rare Diseases.
“Italy – he explains Annalisa Scopinaro president of the Italian Federation of rare diseases – it is a country that has many strengths, but also some critical issues. The new national plan, updated 7 years after the expiry of the previous one, is still one of the few European ones; we are perhaps the only ones with a dedicated law, but the implementing decrees are still missing; we have the most extensive newborn screening in Europe, with 49 pathologies included in the panel and a specific program, active in all regions at the end of 2022 and with increasing homogenization of the pathologies included. The only drawback is the inclusion of Sma”, spinal muscular atrophy, “although fired in 2021, still not included and being tested in various regions”. And again: Italy counts “the number of health workers belonging to networks highest European benchmark in Europe; treatments approved in numbers equal to the European average; 8.4 million doses of orphan drugs dispensed; increase in the number of drugs for rare diseases, CME courses dedicated to rare diseases (from 49 in 2021 to 74 in 2022) and in the weight of authorized clinical studies on rare diseases out of the total clinical trials (from 31.5% in 2018 to 35.3% in 2022)”.
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Healthcare mobility
Reading the report, adds Scopinaro, also outlines “a country that still runs at different speeds: 7 regions and autonomous provinces have no center participating in the European reference networks and two thirds of the hospitals that participate in at least one network are located in northern regions. This fuels the phenomenon of healthcare mobility, with all its consequent healthcare, social, ethical and economic implications for patients: the estimate of mobility is equal to 15% in the general population and 17.8% in minors”.
Furthermore, “the surveys that the federation has developed, through the MonitoRare Barometer – continues Scopinaro – tell us that the problems most felt by the community of people with rare diseases – about 2 million people – and their families are those that impact on the area gray that exists between health care and social support: the separation of responsibilities between the Ministry of Health and the Ministry of Labor and Social Policies, with non-integrable funds, but above all with a lack of structured exchanges which does not help the construction of a support network “.
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Late diagnosis
Then the great unresolved issues remain: “The diagnostic process is still too long (on average it takes 4 years to arrive at a diagnosis); the therapies remain insufficient (to date they are available only for 5% of the pathologies) and the time needed to become available too dilated; the need to develop a ‘holistic’ management that includes the whole process of the person and always includes psychological support; school inclusion and job placement of people with rare diseases and, more generally, with disabilities, still far from being truly guaranteed; the urgency of having adequate training for all the players involved, from clinicians to patient representatives, up to those of institutions; the guarantee of homogeneous access to treatment quality palliatives, untying them from the common meaning linked to an end of life”.
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This year, concludes Scopinaro, “the report is enriched with insights: on the palliative care network, in a first attempt at a census and snapshot of what exists; on decentralized clinical trials; on the job placement of people with disabilities; on the psychological needs of children with rare diseases (thanks to the collaboration with Sipped); on sport and the support given by the Special Olympics (thanks to the collaboration agreement drawn up last year with the association); on the Disability Card; on a research methodology for study of epidemiology and for the development of algorithms for the early identification of rare diseases (edited by Trifirò and Crisafulli).The updates on the insights of previous years continue, which together with the data manage to provide an almost exhaustive picture of the initiatives, projects, ongoing activities for people with rare diseases”.
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