February 6, 2023

Rare diseases, the challenges that await the new government

300 million people worldwide, 30 million in Europe, between 2.2 and 3.5 million in Italy. These are the numbers that describe the breadth of the impact of the approximately 8 thousand rare notes notes. The last legislature was full of goals for the community of rare diseases: in November 2021, Parliament approved the consolidated text on rare diseases (law 175/2021). In recent days, the first of the implementing decrees provided for by the law was issued with the appointment of the National Committee Rare Diseases, demonstrating that the path to the application of the law has really started. The ball now passes to the new government to which the interventions provided for by the rule is implemented and prowpite the challenges still open.

That of the great challenges of rare diseases is one of the themes of the last day of the Summer School 2022 – The PNRR between war economy and disruptive innovation, organized by Healthcare engine, In progress in Asiago from 21 September.

The approval of the Law on Rare Diseases

“LApproval of the rare disease law was a great milestone of this legislature;a law of parliamentary initiative that required 3 and a half years of work and and managed to overcome many obstacles, building a regulatory framework for the protection of 2 million patients and for their families who have been waiting for recognition for their requests for many years “, He says Fabiola Bologna, Secretary XII Social Affairs Commission of the Chamber of Deputies. “Yesterday morning the first implementing decree was signed and broadcast which contains the list of subjects that will make up the National Committee Rare Diseases. This makes me very happy because this allows us to release the national plan of rare diseases. In this regard, my last act to be a parliamentarian was an agenda that commits the government to evaluate the opportunity to publish the national updated rare diseases plan, which has already been drawn up thanks to the work of a ministerial table of expertsand shared at the Conference State Regions.

We hope, therefore, that the first act of the next legislature will be released the plan “.

Law 175 was the arrival point that started over 20 years ago, he recalled Taruscio Sunday, former director of the National Center for Rare Diseases of the Istituto Superiore di Sanità. “It was a long job. A path to small but decided from the dark to light for rare diseases and the people who suffer from it and which has culminated in Italy in the approval of the consolidated text on rare diseases. Something that does not exist in any other country and that will ensure uniformity to citizens throughout the national territory.

Now it is necessary to continue this job all together, since we are all pieces of a great design “.

Elisa Rozzi, Responsible for transfusion activity

Elisa Rozzi, Responsible for transfusion activity, rare disease network and genetic network, Emilia-Romagna has underlined the commitment that the regions for some time has already been deep in the field of rare diseases. “Having a single text is a fundamental step. However, as regards the regions, many of its contents were already allagenda”, points out. “This means that, over time, the Regions have developed solutions and matured a heritage of skills that are happy to make available to the work tables that in the future will be dedicated to rare diseases. We hope our participation is effective “.

Just participation is the key to dealing with the challenge of rare diseases according to Cecilia Berni, Programming and monitoring manager of the regional network of rare diseases and congenital defects and the network of birth points and specialist pediatrics of the Tuscany Region. “Our region he said has long developed countless modalities and tools of participation by citizens, also adopting a law dedicated to deliberative democracy. The participation of citizens, in fact, is not only an instrument of growth of democracy, but it is also a means of reducing the conflict between organization and citizens.

This also applies to rare diseases: the tools to build methods of participation are, just adapt them to the complexity and diversity that characterizes the world of rare diseases “.

In 2021 important objectives were achieved

“In 2021 important objectives were achieved by and for the community of people with rare disease: now we have to do thelast mile to make sure that the voice of people with rare disease can continue to find listening and space tointerior of the policies that will be carried out in the next legislature “, he added Annalisa Scopinaro, President of United, Italian Federation of Rare Diseases. “In recent days we unite has appealed to political leaders to ask that the commitment in the field of rare diseases will continue and that for example the implementing decrees of law 175 and those on clinical experiments are approved, that the national rare diseases are financedand magazines the INPS tables thanks to which it is possible to obtain thecivil disability. Among the requests, also the stabilization of health personnel dedicated to rare diseases and the approval of the Lea, fundamental because all rare patients, wherever they reside, have the recognition of the rare disease and all the necessary treatments “.

Speaking of treatments, he underlined Patrizio Armeni, Cergas SDA Bocconi, “There is a misunderstanding in which we often fall, especially since, for some rare diseases, highly effective but high cost treatments are available: the idea that the advent of these treatments represents a new, important, cost for thehealth service. In reality, this derives from the ignorance on what was the economic weight of that disease on society before being treated. The advent of a new treatment, therefore, does not create a new cost: it moves only the economic burden, made of loss of good health and real economic flows, such as the loss of productivity or the impact on the caregiver, on the health service account.

And in this way, producing a positive impact on the health of the patient and on society “.

From this point of view, he said Mario Melazzini

From this point of view, he said Mario Melazzini, already director AIFA President Arisla, Italian Foundation of Research for Amiotrophic Lateral Sclerosis,Lapproval of a law of the state dedicated only to rare diseases is certainly a historical goal that reflects a different way of nullto lookto the person, no longer a cost, but a person capable of contributing to the growth of the company, to which they offer theOpportunities to receive equal treatments in any living place, to be able to access the most innovative therapies, to be part of the research phases. Research, He added Melazzini which, establishes the law, must be supported together with the production ofOrphan drugs “: determining factors for concrete repercussions on the quality of life of the person. Well that among the measures envisaged there is lincrease from 5% to 7% of nullAIFA fund, which has allowed today theuse of orphaned drugs not yet authorized for people with rare diseases “.

It is not only research but already current clinical practice, however, the use of diagnostics made possible by genomic medicine. That in Italy struggles to take off, despite being able to make a decisive contribution to what Giorgio Perilongo, Professor Professor Health Department of Woman and Child, University of Padua, defines “Diagnostic odyssey. It is estimated that 50% of rare patients never receive a diagnosis, which 25% wait 5-30 years for a diagnosis, and the two fifths receive at least one incorrect diagnosis “, he has declared.

“Medical genomics techniques are available on a large scale, their costs have reduced dramatically. An ISS working group on mandate of the Ministry has even developed a genomic national plan. Yet we suffer from delays regarding the grounding of this techniques and the transfer of the genomics to clinical practice “, He added Perilongo, hoping for the insertion into the Lea of the texts of Whole Genome Sequencing.