What are rare diseases and what are the supports for families, caregivers and research
It has taken over three and a half years of political battle, but it is finally the Single Text for Rare Diseases it has become a law of the state. Approved by the Senate Health Commission in its deliberative session, the new regulation is the first that organically defines the rare diseases, the rights of those affected and the organizational framework, a matter that was previously regulated only by ministerial decrees.
This step is the result of the strenuous commitment made for years by patient associations, but also by some politicians who are particularly sensitive to the issue. The Senator Paola Binetti, President of the Parliamentary Intergroup for Rare Diseases, comments: “This law is a beautiful example of teamwork, the result of collaboration with all parties in various capacities engaged in the rare diseases sector, and support from different policy areas. I hope that the same collaborative spirit will be seen in the months to come, not only in the implementing decrees, but also when the possibility of making improvements opens up, and obviously also during the work of the now forthcoming Budget Law, where funding will need to be allocated. for the implementation of National Rare Diseases Plan. We managed to get the best law possible under the conditions we had. Now the application will have to be carefully monitored so that all the provisions are actually implemented “.
The Undersecretary of Health Pierpaolo Sileri welcomes this approval as “the beginning of a decisive phase in which it will be necessary to accelerate the step towards the definition of specific decrees that can fully implement it”, while the Honorable Fabiola Bologna Secretary of the XII Commission of the Chamber underlines: “We have reached a beautiful milestone, we have not let the pandemic stifle the voices of the sick. This required a great deal of commitment, but also many discussions and some compromises that will make it essential to deal with some aspects, even important ones, in the implementing decrees. Today we are celebrating this first decisive step forward, because finally the health and social principles and rights for rare patients are in a unitary regulatory framework! From tomorrow it is necessary to have the courage to continue so that the standard is transferred into the real life of rare patients by improving it, simplifying it and consolidating the good practices developed over the years. Finally, I hope that the deadline for the renewal of the national rare disease plan will be met, and therefore to have approved it by 28 February, the next rare disease day ”.
He also rejoices Francesca Pasinelli, general manager of Fondazione Telethon: “We are really happy that the institutions of our country have wanted to send out a signal of concrete interest for patients and families facing a rare genetic disease and for the research dedicated to them. Precisely because of their rarity, these pathologies tend to be neglected by public and private funding, which is why there are realities such as our Foundation, which open ways to increase knowledge and give life to new treatments – says the dg of the most important charity dedicated to rare genetic diseases – We are all seeing how much thanks to scientific research it is possible to illuminate the vision of the future with hope even in complex periods like the present one. This is why it is an important sign that the institutions have wanted to give support to those who, during a pandemic, are even more fragile and vulnerable. We are sure that this regulatory transition can be a harbinger of a further strengthening of our system with the support of those realities that strive every day to give concrete answers to those living with a rare genetic disease, contributing in general to knowledge and scientific progress ” .
This is undoubtedly a step of fundamental importance, but not decisive. After the publication in the Official Gazette and the entry into force of the law, the terms within which to produce five different documents necessary for the full implementation of the Consolidated Law will run: two decrees, two agreements in the State-Regions Conference and the Regulations of the Ministry of Health, in agreement with the Ministry of University and Research. Let’s see them in detail: within two months a decree of Hope is needed to establish the National Committee for Rare Diseases and within three months the Solidarity Fund for people affected by rare diseases must be born, decreed by the Ministry of Labor in conjunction with the Ministry of Health and the MEF. At the State-Regions conference, it is first necessary to approve the Second National Rare Diseases Plan (which will have to be renewed every three years) and the reorganization of the Network, an act that has been awaited for many years and for which there is a three-month deadline. The second agreement will have to define, again within three months, the methods to ensure adequate information for health professionals, patients and families, to be adopted within 3 months. Within six months of the entry into force of the law, the process will be completed by the adoption of a Regulation of the Ministry of Health, in agreement with the Ministry of University and Research, aimed at establishing the operating mechanisms of tax incentives in favor of who engages in the development of therapeutic protocols on rare diseases or in the production of orphan drugs. Only in the second part of 2022 will it be possible to examine the first concrete effects of this law.
With regard to research support, the new law provides for the establishment of a fund for preclinical and clinical studies in the field of rare diseases, for observational studies and compassionate use registries for therapies not yet available in Italy, for surveillance programs on orphan drugs and on innovative treatments that require more and further analyzes with respect to safety and efficacy in the long term, for the research and development of plasma-derived orphan therapeutic solutions and for neonatal screening test development projects for the diagnosis of rare diseases for which a therapy is available, or in proven advanced development. In addition, a tax credit for research is envisaged, starting from 2022, equal to 65% of the expenses incurred for the start-up and implementation of research projects, up to the maximum annual amount of 200,000 euros for each beneficiary, within the overall spending limit of 10 million euros per year.
Article 11 of the law also provides for an integration of National Fund for Orphan Drugs, with a further payment equal to 2% of the expenses by April 30 of each year by the pharmaceutical companies on the total amount of the expenses incurred in the previous year for the promotion activities aimed at healthcare personnel.
What are orphan drugs?
The so-called “orphan drugs” are those “intended for the diagnosis, prophylaxis or treatment of a condition that is life-threatening or chronic debilitation and which affects no more than 5 out of 10,000 individuals when the application for orphan drug status, or if it is intended for the diagnosis, prophylaxis or treatment of a life-threatening condition, a seriously debilitating condition, or a serious and chronic condition, and it is unlikely that, in the absence of incentives, the marketing of this drug will be so profitable as to justify the necessary investment “.
When can it be said that a disease is rare?
The Text categorizes diseases, including genetic ones, defining “rare” as those with a prevalence of less than 5 out of 10,000 individuals (0.05%). There is also the subgroup of “ultra rare” diseases, which affect one in every 50,000 individuals. Rare cancers are also included in the law that has just been approved.
How many rare patients are there in Italy?
About 2 million, of which a good 70% in pediatric age. The data coordinated by the National Register of Rare Diseases of the Istituto Superiore di Sanità (ISS) allow to estimate 20 cases of rare diseases per 10,000 inhabitants and every year there are about 19,000 new cases reported by over 200 health facilities spread throughout the country. 20% of the pathologies involve people of pediatric age (Under 14). In this patient population, the most frequently occurring rare diseases are congenital malformations (45%), diseases of the endocrine glands, nutrition or metabolism, and immune disorders (20%).
How many and what are the rare diseases?
Hemophilia, Fabry’s disease, Narcolepsy, Myasthenia gravis, Huntington’s disease … There are thousands of rare diseases. We are currently around 6,000 / 7,000, but the number is updated every time new ones are described regularly in scientific publications. The progress of genetic research makes it possible to identify previously hidden diseases. Between official diagnoses and still to be formalized, we are dealing with tens of millions of patients throughout Europe.