Άρθρο του Στέλιου Κυμπουρόπουλου για το Euractiv.com

Rare diseases are very serious conditions that affect around 30,000 people in the European Union. Spinal Muscular Atrophy (SMA) is a rare genetic, neuromuscular disease affecting approximately 1 in 3,900–16,000 live births in Europe. In general, as rare diseases affect a very small number of the population, the pharmaceutical industry in the past has been reluctant to invest in the research and development of medicinal products to treat them. For that reason, in 2000, the EU introduced new legislation that proposed incentives for developing orphan and other medicinal products for rare disorders.

Stelios Kympouropoulos is a Member of the European Parliament in the Group of the European People’s Party.

To date, the European Commission has already authorized 206 orphan medicines and has designated 1841 products as orphan medicinal products. Those investing in these medicines benefit from incentives such as fee waivers for the regulatory procedures and a 10- year market exclusivity. They also benefit from protocol assistance, which should facilitate the development and authorization of innovative medicines beneficial to the patients.

Although there are three treatments available in Europe to support SMA patients, I am disappointed by the fact that many SMA patients are still unable to access the care they need. There are great disparities among member states. We need to harmonize the healthcare system and exchange good practices.

Although there are promising ongoing EU policy files relevant to rare diseases, -including the European Health Data Space, the Pharmaceutical Strategy, the European Pillar for Social Rights, and the European long-term care initiative-, still there is the risk of following a tradition of working separately with no coordination. That tradition will not result to the desirable outcome.

In view of that, on December 14th 2021, along with other MEP´s, I called for the European Commission to urgently introduce an Action Plan for Rare Diseases, to manage rare diseases in a more efficient and forward thinking way, in the ultimate benefit of the patients. It is essential to understand that even though rare disease patients represent a small percentage of the EU population their treatment is crucial for not only themselves and their families but for each Member State and the European Community as a whole.

Diagnosis and treatment of rare diseases such as SMA can result in a more socially inclusive European society and can secure equality, while eradicating any disparities among Member States. Additionally, it is important to raise awareness that SMA can be diagnosed at an early stage, even during pregnancy. Treatment at an early age is vital as all available treatments have a higher efficacy the sooner they are administered, or even pre-symptomatically. This is why I consider it crucial to make newborn screening available to all European citizens.

Although there is no permanent cure, treatment and support by young age can reduce symptoms and help people enjoy an optimum quality of life. They can avoid being hospitalized and that can result in their active inclusion in the society. In addition, early-stage treatment can help avoid institutionalization, providing a better quality of life for persons with rare diseases and allowing their full participation in the society. Personally, I believe that although access to treatment is essential, social rights and better inclusion in society are the areas where people living with SMA need more improvements.

SMA patients face great barriers. It is my political goal to secure and embrace the right of independent living for all European citizens. Everyone, with no exception, should be able to decide where, how and with whom he or she wants to live. Most SMA patients live with permanent and severe physical impairments, which means that apart from the treatment for SMA, they also need a network of services. This translates into extra cost of living that has no public coverage for many Member States. Not everyone is available to cover that cost and so there is a higher risk of his or her economic deficiency and social exclusion.

Consequently, on the European level, the EU’s Strategy for the rights of persons with disabilities 2021-2030, which was adopted in March 2021, will lead to improvements in the area of social rights, and will ensure that all persons with disabilities have equal opportunities and equal access to participate in the society. I am positive that the EU´s strategy for disabled persons will eliminate the inequalities among EU member states, as well as the inequalities among different social groups. Adopting the newborn screening for SMA, making treatments available, securing the right of disabled people to personal assistance are important steps towards that goal.

We need to follow the examples of those member states that are leading the way in the areas of healthcare system preparedness, diagnosis, access pathways, and access to treatment and care, as well as in participation of patients’ organizations in the policymaking. We need to collect disaggregated data on persons living with SMA to help identify and address the barriers faced in exercising their rights, by giving them the opportunity to get involved and exchange their personal view as much as possible. Medical data and best practices should be exchanged among states so that not only doctors and healthcare practitioners but also SMA patients can get all the information they need at any time.

Finally yet importantly, we must secure that not only SMA but also all rare disease patients are not disproportionately affected by stigma or discrimination, due to the lack of knowledge and expertise in the field or lack of awareness. We should prevent and combat prejudice, to foster their inclusion and create an environment respectful for their rights and dignity.