The term rare applies to those diseases affecting a limited number of people with a prevalence below a given cut-off point, which is codified by each country’s legislation. The EU sets this threshold at 0.0005% of the population, i.e., when it affects less than 1 in 2000 inhabitants. A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. There may be as many as 7,000 rare diseases.
Rare diseases are characterised by a broad diversity of disorders and symptoms that vary from disease to disease and from patient-to-patient suffering from the same condition.
Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment, and they are often chronic, progressive, degenerative, and frequently life-threatening.
The lack of scientific knowledge and quality information on these diseases often results in a delay in diagnosis. Moreover, it is equally difficult for patients to access effective treatment and receive social and medical care for the condition. This often results in heavy social and financial burdens on patients.
This explains why we focus mainly on treatment and assistance for rare disease sufferers; our commitment concentrates on this field. We believe this therapeutic area is of great importance and social impact.