Sanofi’s commitment to improving the lives of people with Rare Diseases

Stelios Melachrinos and Athena Papapapou talk about Sanofi’s assistance to people with rare diseases. Stelios Melachrinos, Head of Rare Diseases/Rare Blood Disorders Greece & Cyprus What exactly do we mean by ‘Spanish Diseases’? Rarely are diseases that affect a very small percentage of people in the general population or individual population groups (1 in 2,000 people). Despite the low number of patients in a given population for each individual condition, we must not forget that more than 6000 rare diseases have been identified today and worldwide, 350 million people are affected by them. Many of these diseases are chronic, evolving and life-threatening or have chronic disability, while 72% of them are genetic. Although they may concern all medical specialties, most are usually neurological, autoimmune, and metabolic diseases, as well as congenital malformations. What are the challenges in developing treatments for Rare Diseases? Today, for only 5% of rare diseases there is an approved treatment, the so-called orphan medicines. There is therefore a large therapeutic gap, the discovery of new drugs is imperative and there is a large scope for conducting clinical research in this area. However, Research and Development are delayed because understanding rare diseases and clinical experience in the scientific community is limited, mainly due to the lack of data and the small number of patients to conduct clinical trials. We are recruiting innovation and investing in research to develop new therapeutic options that can respond to uncovered medical needs. We have scientific excellence and innovative technological platforms to design medical precision treatments, which some years ago seemed impossible. And we never do. Every step forward is the trigger for the next step with new discoveries. Sanofi has a long-standing leadership presence in the Rare Diseases area. What is her contribution in dealing with them? For more than 40 years we have been leading by developing innovative treatments for the treatment of many rare diseases. In addition, we are working systematically to reduce the time interval between receiving a definitive diagnosis, which for many patients can last up to 10 years or longer. The low frequency of diseases, the great diversity of their clinical image, the limited clinical experience of those health professionals who have not been in contact with these diseases, but also the low accessibility to diagnostic methods lead the sufferers to a diagnostic “Galgotha”, resulting in valuable time being wasted and their health burden. In order to expand the knowledge of the scientific community in the field of diagnosis and management of rare diseases, we use the great data and capabilities of Artificial Intelligence, while supporting innovative diagnostic control programs. It is worth noting that Sanofi has contributed to the rapid and reliable diagnosis of more than 40,000 patients worldwide to date. Athena Papapalou, Head of Public Affairs CSE MCO & Head of Public Affairs Greece On 29 February it was World Rare Disease Day. What is the main message of this day? World Rare Disease Day is commemorated every year on the last day of February in order to remind that every patient with rare diseases has the right to parity and social inclusion. Equality in practice means reducing obstacles to the full participation of people living with a rare condition in society. We share the same vision in Sanofi and therefore work consistently by implementing a variety of actions and programmes, both globally and in Greece, in order to equal access to available treatments, early and reliable diagnosis, innovation and patient support. Among these actions is the global corporate initiative “Rare Humanitarian Program”, which has been implemented for more than 30 years and has thus far offered free access to treatments for 3,500 patients with rare diseases in more than 100 countries. At local level, how does Sanofi Greece support the right of patients to equal access to early and reliable diagnosis? Recently in Greece we have taken an important initiative in this direction, supporting an innovative genetic diagnosis programme of rare diseases. Through this award-winning program, patients with specific symptoms from Greece and six other countries in Central and Southern Europe gain free access to an advanced genetic examination technology, which ensures rapid and reliable diagnosis. The program has multiple benefits for the patient and his family, as speeding up diagnosis and early treatment leads to improved prognosis and better quality of life. At the same time the program relieves an important physical, mental and economic burden for the patient, while also contributing to saving resources for the National Health System. Moreover, given that samples from all of the above countries are analysed in a specialized laboratory of molecular analysis in Greece, our country is becoming a focus of access to medical innovation for the wider region of Central and South Europe. The access of patients with rare treatment conditions meets obstacles, both in Greece and worldwide. How can this problem be addressed? In Sanofi we envision a world where every patient living with a rare disease has equal, affordable and sustainable access to treatment, regardless of geographical constraints and his economic situation. In order to achieve this objective, we work closely with all relevant bodies to ensure the sustainable and equal access of ‘rare’ patients to treatments. In Greece, we support the development of a National Action Plan for Rare Diseases, in which we propose actions such as enhancing prevention, upgrading early and valid diagnosis, attracting more and more clinical studies and increasing patient participation in them, diversifying the assessment and funding of medicines for rare diseases, and institutional assurance of the social benefits of these patients. V 1.0-03.2024