Green light unanimously in the deliberation in the Hygiene and Health Committee of the Senate to the consolidated text on rare diseases. “Concrete help to patients and their families and an example of good politics. Now it is necessary to implement the regulations in all regions, put the existing one into a system, update the plan for rare and diseases every three years. The text is a new beginning, the rightness of a Health Service is measured by how we treat rare diseases “, commented the president of the Hygiene and Health Commission of Palazzo Madama Annamaria Parente. «The bill, of which I was rapporteur and one of the first proponents, was voted unanimously. It is an enormous satisfaction, now we need to speed up on the implementing decrees. It is a measure that finally gives dignity to people with rare diseases and their families, ”he commented Paola Binetti (UDC), rapporteur of the law.
Ensure uniformity in the provision of services and medicines
The law that received the final go-ahead in the deliberations of the Senate Senate, in its sixteen articles, in addition to supporting research, aims to protect the right to health of people suffering from rare diseases, through a series of measures to ensure uniformity the provision of services and medicines, including orphans, throughout Italy. But it also aims at coordinating and periodically updating the essential levels of assistance and the list of rare diseases. The coordination, reorganization and strengthening of the national network for the prevention, surveillance, diagnosis and treatment of rare diseases is fundamental. The National Plan for Rare Diseases will be approved every three years, defining the objectives and relevant interventions in the sector.
When a disease is rare
The text defines rare diseases, including those of genetic origin, which have a low prevalence (less than 5 individuals out of 10 thousand). Ultra rare diseases are also included in the context of rare diseases, characterized by a prevalence of less than one individual in 50 thousand. It is also established that rare tumors, whose identification derives from the incidence criterion, are among the rare diseases governed by the approved law.
What are orphan drugs
They are defined as “orphan drugs”, “intended for the diagnosis, prophylaxis or therapy of a condition that is life-threatening or chronic debilitation and which affects no more than 5 out of 10,000 individuals at the time 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 ». Or if there are no satisfactory methods of diagnosis, prophylaxis or therapy of the conditions authorized or, if such methods exist, if the drug has significant beneficial effects for those affected by these conditions. Article 11 of the law also provides for an integration of the National Fund for Orphan Drugs, with a further payment of 2% of self-certified expenses by 30 April of each year by pharmaceutical companies on the total amount of expenditure incurred during the year. precedent for promotional activities aimed at healthcare personnel.
The therapeutic diagnostic plan is needed
It is the reference centers identified by the regulation approved by decree of the Minister of Health 279/2021 that have to define the personalized diagnostic therapeutic assistance plan, including the treatments and monitoring that those suffering from a rare disease need. The goal is also to guarantee a structured path in the transition from pediatric age to adulthood. The plan, with cost forecast, is shared with the services of the National Network for Rare Diseases, which have the task of activating it, after having shared it, through informed consent, with the patient or whoever exercises parental responsibility and with family members.