Rare diseases in Piedmont: what they are and how many cases each year

The WHO estimates that there are from 6 thousand to 8 thousand different rare diseases, and that approximately 10% of the world’s population is affected by them. A rare disease is defined as a pathology that affects fewer than 5 out of 10,000 people in the European Community. The fact that the WHO itself speaks of “estimate” means that it is moving in a largely unexplored planet, where the actual pathologies are much more than those diagnosed.

This is why the recent inauguration of the “FibroLab” Research Laboratory of the Turin ASL is good news. It is intended to provide an important contribution to research, focusing on crucial aspects of the development of chronic kidney diseases, which are responsible for approximately 170 dialysis admissions per million inhabitants every year in Piedmont. Rare diseases, also in this case: nephrological and rheumatological. On Saturday, however, at the Mauriziano, there will be an awareness day against hereditary angioedema.

Some data. On January 1, 2024, the Rare Diseases Registry of Piedmont and Valle d’Aosta registered 51,454 patients, an increase compared to 40,000 a few years earlieraround 3,200 new people with rare diseases are registered every year: an average figure for the last five years which does not include patients suffering from rare tumors, followed by the Oncology Network.

«Also on that date – explains Professor Dario Roccatello, director of the university structure of Nephrology and Dialysis – CMID (Centre of Excellence for Nephrological, Rheumatological and Rare Diseases) of the San Giovanni Bosco hospital – the prevalence of rare diseases reached 1% of the population. Numbers behind which faces, stories, suffering and desperation are hidden.

Attention: only 5% of rare diseases have a specific therapy and the pathologies that benefit from treatments are usually the less rare ones, for which the pharmaceutical industries are encouraged to make investments that offset the costs of drug development. Furthermore, some drugs, developed to treat rare diseases or tumors, have become real “blockbusters”.

The situation is different, adds Roccatello, for ultra-rare diseases, where the investment risks not being profitable: «A proposal to incentivize the development of these treatments consists in granting a greater duration of market exclusivity both to the drugs placed to the point that other pharmaceutical products marketed by the same manufacturer”.

More generally, if it is true that, even in the absence of curative drugs, it is possible to alleviate the suffering of these patients using already available products, these treatments are not provided free of charge in all Regions because they are not included in the Ministry’s Essential Levels of Assistance. It is no coincidence that the Piedmont and Valle d’Aosta Coordination Center for Rare Diseases asks for some measures to be included in the LEAs: they could improve the health of patients and reduce the costs of complications. A double advantage: economic, and even more so social.