From the Ossfor Report 5 proposals for the use of the NRP for people with rare diseases

Give suggestions for grounding the National Recovery and Resilience Plan that takes into account the needs of people with rare diseases, supported by reliable estimates of their number in Italy, their distribution by sex, age and disease groups, expenditure on drugs and services, also taking into account the impact of the pandemic: these are the main guidelines followed in the 5th Annual Report of the Observatory for orphan drugs – Ossfor, the first study center and think-tank dedicated to the development of policies for governance and sustainability in the rare diseases sector, born from an initiative of the Center for Applied Economic Research in Healthcare (Crea Sanità) and of the Observatory for rare diseases (Omar), presented to the press this morning. According to the Report, and considering the data available for the years 2018-2020 referring to Lazio, Lombardy and Tuscany, it is possible to estimate a prevalence of subjects with at least one exemption for rare disease, between 0.65% and 0, 76% of the population, with the Lombardy Region on the upper end: in total about 400,000 patients exempt from rare disease in Italy. This is a figure which, although not exhaustive of all rare patients – because some of these without exemption codes, without definitive diagnosis or, perhaps, already exempt for income – report after report is getting closer and closer to reality, thanks also to the national extension of the list of exempt rare diseases. Rare diseases – the document reads – affect women to a greater extent, with a prevalence of 0.81% compared to 0.69% of men, even if the data show that men absorb more economic resources. which absorb 53.7% of resources against 46.3% of women. As regards the distribution by age, a regularity is observed among the Regions analyzed with a first peak in adolescence (10-19 years), a subsequent peak in the fifth decade and then a general increase in elderly age when other rare diseases are associated. comorbidities: however, ultra-rare diseases are an exception, which are mostly characterized by childhood onset and often without any therapy and with a fatal outcome, and therefore with an absolute peak in the first years of life. “By comparing with the calculations of past years, their reliability is confirmed – explained Barbara Polistena, scientific manager and director of Crea Sanità – this should allow for an increasingly precise and manageable: rare diseases can no longer be, from the point of view of health policies, something unexpected and difficult to manage. “In the 5th Ossfor Report, a detailed analysis of the NRP is made, of the critical issues but also, and above all, of the opportunities that this can represent. “Unfortunately – underlined Federico Spandonaro, San Raffaele University of Rome and president of the scientific committee of Crea Sanità – rare diseases, in the Pnrr, are mentioned only in the investment line called ‘Enhancement and enhancement of biomedical research NHS: 200 million euros for rare diseases and cancers, to be spent between 2023 and 2025 do may have completed the related tenders. This is a significant figure but, in itself, certainly not decisive. Furthermore, in the Pnrr, the health aspect (mission 6) and the social aspect (mission 5) have been kept separate, yet for many years there has been talk of integration and it would be good, in concrete ‘grounding’ projects, that this integration really happen. It should also be carefully assessed whether some of the tools proposed are really useful for the rare patient: community houses, for example, could prove to be an intermediate level between general practitioner and referral center which, if not well defined in its functions, could also represent a complication or, worse, an additional bureaucratic burden where instead it would be extremely important to streamline and simplify “. In addition to the critical issues, 5 suggestions are proposed in the Report so that the NRP is adapted to the specific needs of rare patients and adapts to small numbers: development of the increasingly “individualized” electronic health record, which includes indications for emergency management as well as treatment plan for the rare patient; timely use of the data, now very complete, contained in the databases and regional registers, putting them all in communication with each other and avoiding building new superstructures in their own right; simplified procedures for the use of the funds identified in the NRP for research, which must be allocated through tenders; strengthen home assistance and ensure that even the home is adapted to the needs, also by drawing on the building funds established by the NRP, both for the adaptation of private homes and for the construction of social housing spaces; adaptation of the technological park, providing for the purchase of equipment for advanced therapies of the highest specialty and ‘mobile’ equipment as well as developing telemedicine and teleconsultation practices, which at this point should also become an important item in the diagnostic paths. therapeutic-assistance.