European Observatory of Rare Diseases reveals that Europeans find conditions for patients with rare diseases are unacceptable

ASAP FOR CHILDREN has published the results of its third European Rare Disease Observatory. Carried out in 2024 by Ipsos among 11,413 people in 11 European countries, this vast survey takes stock of Europeans' perceptions and expectations regarding the management of rare diseases and the search for new, effective treatments to cure them.

Faced with situations experienced by rare disease patients that they consider unacceptable, the vast majority of Europeans express high expectations for system and process improvements.

Rare diseases affect a very large number of Europeans, and knowledge about them is growing

The term “rare disease” remains largely unknown to the vast majority of Europeans. While more than 1 in 4 feel they know exactly what this term means (28%, up 2 percentage points from 2022), the vast majority feel they either know its definition vaguely (54%), or don't know what it is at all (18%, -3 pts on 2022). More than 7,000 rare diseases exist in the world, of which 80% are genetic in origin, and are often chronic and life-threatening.

The results of the 2024 Observatory show that rare diseases are not so rare: around 1 in 20 people claim to be affected (4%). In the European Union, rare diseases affect more than 30 million patients. What's more, almost 1 in 3 Europeans are directly or indirectly concerned (28%) about rare diseases, either because they suffer from one themselves, or because they have a relative or acquaintance who does.

Europeans are not resigned to the fact that the situations experienced by patients suffering from rare diseases are acceptable

Faced with the reality of the painful journey a rare disease diagnosis brings, Europeans do not accept that the outcome is inevitable: if one of their loved ones were suffering from a rare disease, 73% would not accept waiting several years without obtaining a diagnosis (+ 1 point since 2022). Wait times for definitive diagnoses can be very long for rare disease patients: on average, they can exceed 6 years for around 1 in 5 patients. Over and above the physical and psychological consequences for patients, diagnostic procrastination may also result in a significant reduction of the patient’s chances for survival or cure.

More than two-thirds of Europeans would not accept discovering that no research is being carried out to develop a treatment for the rare disease of someone close to them (68% of Europeans questioned, +1 point). This figure rises to 73% among the French, who consider that it is possible to act if all the players concerned mobilize. In recent years, the hope placed in research into genetic diseases has become a reality as diseases previously considered incurable can now be effectively treated thanks to gene therapy. For example, this is the case with type 1 spinal muscular atrophy, for which a treatment has been developed: at the end of a 2-year follow-up, the survival rate is 100% for participants treated with Zolgensma®, compared with 38% for the untreated cohort.

Citizens expect far more, far faster

There is strong support for all measures aimed at reducing diagnostic delays. An overwhelming majority of Europeans believe that every patient should be given a faster diagnosis, with the aim of reducing this to 6 months (89%, of whom 64% consider this to be essential). They also overwhelmingly believe that doctors need to develop a “culture of doubt”, by encouraging them to listen to the symptoms described to them by the parents of sick children (87% of whom 51% consider this essential), and that patients without a diagnosis should be systematically included in a global diagnosis and research program (83%).

Europeans are also overwhelmingly in favor of speeding up access to innovative treatments, even if this means taking risks for the patient. The measure is also widely supported: 86% want it, and 50% consider it essential. Support is overwhelmingly in favor in all the countries surveyed.

About this study

11,413 Europeans aged 16 and over (2,413 interviews in France, 1,000 in Germany, 1,000 in Belgium, 1,000 in Spain, 1,000 in Great Britain, 1,000 in Italy, 1,000 in Sweden, 1,000 in Greece, 1,000 in Poland, 1,000 in the Netherlands). The sample was interviewed via the Ipsos Access Panel Online. Quota method: gender, age, occupation of respondent, urban area and region. The survey was conducted from February 19 to March 19, 2024.