ΣΦΕΕ – Policy Brief
Rare Diseases Policy
SFEE Rare Diseases Platform
Turning Innovation into Hope for Rare Diseases
EFPIA: Making the impossible, possible for people living with rare diseases:
Rare diseases represent one of the most complex and demanding challenges for modern healthcare systems. According to the European Union (EU) definition, rare diseases are those affecting fewer than 5 people per 10,000 population. It is estimated that rare diseases affect approximately 6–8% of the EU population, which translates to 27 to 36 million people who will face a rare condition at some point in their lives (in Greece, it is estimated that around 350,000 to 600,000 individuals are affected).
Although each rare disease affects a relatively small number of patients, more than 6,500 clinically recognized rare diseases have been identified. Many of these conditions are genetic in origin, while others include certain infectious diseases, autoimmune disorders, and rare forms of cancer. Rare diseases often manifest early in life and frequently lead to severe disabilities, placing a significant burden not only on patients but also on their families and healthcare systems.
According to data from the Rare Barometer 2024 survey, the average time required to achieve an accurate diagnosis of a rare disease in the European Union is 4.7 years. Misdiagnosis and significant delays in the diagnostic process are common, often resulting in inappropriate treatments and prolonged deterioration in patients’ quality of life.
At the same time, fewer than 5% of rare diseases have an approved treatment, highlighting a critical gap in care and underscoring the urgent need for increased investment in research and the development of innovative therapies. The overall burden of rare diseases is not only medical but also social and economic, significantly affecting patients’ families and caregivers, as well as national healthcare and social welfare systems.
In response to these complex and longstanding challenges, the adoption of a coordinated, holistic, and multi-sectoral approach is essential. Guided by this need, the member companies of SFEE have established the Rare Diseases Platform, aiming to shape a comprehensive national policy for the prevention, diagnosis, management, and treatment of rare diseases through collaboration, coordination, and the active participation of all stakeholders.
The Platform’s vision is to create an ecosystem in which individuals with rare diseases are diagnosed early and have equitable access to reliable information and the necessary education for effectively managing their condition, as well as to comprehensive, high-quality healthcare—while also ensuring timely and equitable access to innovative and effective therapies.