Rare diseases now affect 36 million people. They advance in the EU, while Europe stands still

Brussels – We know there are many, but little is known about them, and while we wait to understand more, the evil advances and expands: for the European Union, rare diseases remain a serious problem, and are becoming more so.
In 2016, 30 million European citizens were affected, mainly children; now, there are 36 million across the EU, according to the latest estimates of the European Medicines Agency (EMA). In a decade, therefore, the number of people struggling with such diseases has grown by an average of 600,000 per year.

Many evils, few answers

The problem for the EU is structural, and risks becoming more so. Faced with the increasing number of people suffering from diseases considered to be uncommon, the clinical picture remains difficult to manage. Between 6,000 and 8,000 rare diseases have been identified, at least according to the EU’s classification. As emphasised in a working document of the European Parliament, drafted by the institution’s study and research centre, “there is no formal definition of a rare disease.” In the EU, rare diseases are those with a prevalence of no more than 5 affected persons per 10,000. Based on this classification, there are between 6,000 and 8,000 health disorders, “although the exact number varies as new diseases are discovered and classified,” the study notes.​

https://www.eunews.it/en/2024/02/28/rare-diseases-eu-determined-to-reform-pharmaceutical-legislation/ 

Additionally, because according to the EMA, less than a thousand rare diseases, thus less than one sixth of the total, according to the lowest estimates, benefit from even minimal scientific knowledge, despite scientific advances, approximately 95 percent of known rare diseases still have no approved treatment. This has an impact on patients, for whom accurate diagnosis in the EU takes between 4 and 5 years. This is because rare diseases often hide behind common symptoms, leading to misdiagnosis and delayed treatment.​

Patients and transmission, so much confusion! 

The difficulty in responding also lies in the clinical picture, as mentioned, which is difficult to pin down, and by a census that divides opinion. The EMA has estimates (36 million cases), and the European Commission has others (between 27 million and 36 million). Also, in Brussels, the EU executive believes that “while a rare disease may affect only a few patients, others may affect up to 245 thousand people.” In short, much confusion and few certainties pose a challenge that is becoming increasingly puzzling. ​

Research, the key to overcoming the challenge

What is clear amid so much uncertainty is that around 80 percent of rare diseases stem from genetic causes. For the rest, much work remains. The Parliament has asked the European Commission for a targeted European strategy, an action plan against rare diseases, a cross-party initiative that brings together Popular (EPP), Socialists (S&D), Liberals (RE), Greens, and Radical Left (laLeft), together with adequate resources within the next Multiannual Financial Framework (MFF 2028-2034), which has been criticized. However, new political priorities, first and foremost defence, risk diverting funds. States are therefore encouraged to invest in research, drawing on EU funds dedicated to this purpose. This is, to date, the only way to overcome the challenge of rare diseases.

Much more needs to be done, however: from 2007 to 2020, over EUR 3.2 billion was invested in more than 550 collaborative research and innovation projects related to rare diseases, yet progress in knowledge and cures remains limited.