“The Plan that we are presenting today is the result of a journey that starts from afar, animated by a very strong scientific, associative and above all human community, with complementary roles, which over time has been able to walk together and more expeditiously over the last few years, accelerating the achievement of important goals”, said the Undersecretary for Health, Marcello Gemmato, speaking today at the presentation of the new National plan for rare diseases 2023-2026, approved on 24 May 2023 by the State-Regions Conference seven years after the previous one. The presentation was attended by patient associations, experts and institutional representatives.
“There has always been an identical attitude towards people affected by rare diseases in all politics. Since my entry into Parliament – added Gemmato – I have always been committed to punctually following all the work relating to rare diseases and I am proud to have contributed to the approval of the Consolidated Law in 2021, which I like to remember as an extraordinary exercise of unity of politics, which approved it unanimously. Obviously, the acceleration given to the work for the approval of the final text of the National Plan for Rare Diseases (PNMR) 2023-2026 testifies to the attention that the Government has towards people with rare diseases and their caregivers”.
Living with a rare disease
It is estimated that in Italy over 2 million people live with a rare disease. In Europe, a disease is defined as rare when it affects no more than 5 people out of 10,000. To date there are over 6,000 known rare diseases.
The problems are often common: delay and sometimes absence of diagnosis, lack of a resolutive therapy, difficulty in carrying out research, high care burden.
To give concrete answers, closer to the sick and their families, the new National Plan for Rare Diseases 2023-2026 was approved uniformly throughout the area, financed with 50 million euros from the National Health Fund.
The 2023-2026 Plan
The main lines of intervention of the Plan concern: Primary Prevention, Diagnosis, Care Pathways, Pharmacological Treatments, Non-pharmacological Treatments, Research, Training, Information, Registers and monitoring of the National Network of Rare Diseases.
“With the Plan – said Undersecretary Gemmato – we are equipping people with rare diseases with a tool for a therapeutic approach, taking charge and a homogeneous care pathway throughout the national territory. The plan was designed to simplify the routes and streamline the most bureaucratic parts; if we put the forecast on the ground, the burden on the family will certainly be lighter”.
Information in the National Plan for Rare Diseases: Criticalities and Objectives
Although in Italy there is a plurality of sources of information on rare diseases, recognized and qualified, the National Plan for rare diseases underlines that “people with rare diseases and their families continue to report difficulties in obtaining the information of interest to them, validated and updated. Similarly, health professionals have difficulty accessing some of this information. “Information – reads the Plan – can therefore still be considered today as one of the major critical issues for rare diseases”.
In the national plan, the inter-institutional portal of rare diseases, www.malattierare.gov.itedited by the Ministry in collaboration with the National Center for Rare Diseases of the ISS, and the RaraMente newsletter are included among the main consolidated and qualified information systems on rare diseases.
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See the video of the event Presentation of the National Plan for rare diseases 2023-2026: what changes for patients and clinicians
Watch the video with objectives and key points of the Plan.