International rare disease day 2025: our teams at the forefront

Spinocerebellar ataxia, multiple sclerosis, chondrosarcoma, cholangiocarcinoma, etc. What do these pathologies with obscure names and very different clinical manifestations have in common? They are all rare diseases. However, collectively, these rare diseases are not that rare: they affect 300 million people throughout the world¹. February 28 is dedicated to them. Across the planet, patient organizations, researchers and doctors are rallying together to fight against rare diseases and give them the attention they deserve. An initiative that we at Servier support, reasserting our commitment to developing new treatment perspectives.

Rare diseases, often orphan diseases

A disease is considered to be rare when it affects a limited number of persons, variable from one region to another: less than one out 2,000 in Europe¹ and less than 200,000 persons in the United States². Certain rare diseases, such as cystic fibrosis or Duchenne muscular dystrophy, are well known to the general public. However, most remain poorly known.

Rare diseases are often serious, chronic, progressive diseases, which affect the quality of life of the persons affected. They can cause a motor, sensory or intellectual deficit and, more rarely, a total loss of autonomy.

Rare diseases can be very rare infectious diseases, rare autoimmune diseases, rare allergies, and some rare forms of cancer (thyroid, bile ducts, esophagus, etc.). 80% of rare diseases are genetic³.  The cause of a large number of these diseases remains unknown to date.

Rare diseases are characterized by a great variety of disorders and symptoms which not only differ from one disease to another, but also from one patient to another suffering from the same disease. This can make diagnosis complex and delay the start of treatment when one is available. The great majority of rare diseases are orphan diseases, i.e. diseases for which there is not yet any effective treatment to cure it.

Rare diseases, millions of patients

One of the major challenges today for the association networks of patients suffering from a rare disease (including rare cancers) is to get rid of the image associated with the term “rare”. The rarity of a disease does not mean the phenomenon is rare: if each disease considered on its own is uncommon, the persons living with a rare disease have been estimated at 300 million in the world (including 30 million Europeans⁵), i.e. between 3.5 and 5.9% of the world population¹.

To raise awareness among the greatest number of people possible, and to support those affected, the International rare disease day has been held every year since 2008 on the last day of February. Created and coordinated by EURORDIS (the European federation of associations of persons with rare diseases), this movement plays an essential role in building a world community united for the same objectives: working for justice in terms of social opportunities, health care, access to diagnosis and treatments.

Through various events organized throughout the world, patient organizations, doctors, researchers and rights advocates are mobilized around several issues:

• Improving access to treatment and the quality of life of patients.
• Developing medical knowledge and diagnosis to improve care;
• Speeding up research to favor innovation and the development of therapies;

Battles that we share at Servier: we have made the fight against rare diseases one of our priorities.

Meeting the needs of patients suffering from rare diseases

At Servier, our objective is to meet the medical needs of patients and to improve their quality of life. As an independent health care company committed to therapeutic progress, we are capable of guiding our innovation efforts according to their needs.

Our R&D teams work daily to discover and develop therapeutic innovations to provide treatments that target:

• Rare cancers, such as cholangiocarcinoma (rare and aggressive bile duct cancer), chondrosarcoma (rare bone cancer) or glioma (rare and aggressive brain tumor).

• Certain rare neurological conditions, such as rare movement disorders (Friedreich’s ataxia, spinocerebellar ataxia^{7, 8}…), that affect primarily the central nervous system; or rare neuromuscular disorders (amyotrophic lateral sclerosis, generalized auto-immune myasthenia⁹, etc.), which weaken the muscles and nerves.

To achieve this, we rely on the expertise of our research centers throughout the world: our R&D institute in Paris-Saclay, France, our R&D center in Boston, USA, Symphogen in Denmark, and our SRIMC research center in Hungary.

Therapeutic innovation, source of hope for patients living with a rare disease

An ambitious innovation strategy to fight against rare cancers

In oncology, our ambition is to become an innovative actor focused on treatments against rare cancers. Our innovation strategy aims at developing new therapeutic options adapted to the needs of patients for these cancers, for which treatment solutions are still limited.

Our R&D oncology program concentrates itself on two promising and complementary therapeutic approaches:

• Immuno-oncology, which aims at activating the immune system against cancer cells;
• Targeted therapies, that act specifically on one of the biological mechanisms of cancer cells.

Our objective is to offer patients a personalized and potentially more effective therapy to fight these types of rare cancers. patients une thérapie personnalisée et potentiellement plus efficace pour combattre ces types de cancers rares.

New treatment perspectives against rare neurological diseases

We are also committed to neurology and focus our R&D efforts on the discovery of new medicines that slow down or stop the progression of rare neurological disorders, in order to significantly improve the quality of life of patients.

To achieve this, our R&D teams concentrate on the mechanisms of action common to these neurological pathologies, enabling the development of meaningful strategies to combat their progression.

Based on data from patients, as well as a high degree of biological evidence which provides a robust scientific base to approach these disorders, our neurology research specifically focuses on:

• Antisense oligonucleotides (ASO), of short synthetic modified DNA or RNA sequences, called nucleotides, that selectively modify the expression of the modified genes that cause the diseases. In so doing, this personalized approach allows specifically targeting the causes of the diseases and acting more effectively and in the long term on the symptoms and their progression. For further information on our efforts to use this precision technology in neurology, read our article on ASO.
• The design of small molecules to develop innovative therapies that inhibit the activity of proteins responsible for the diseases. More recently, we have broadened our field of action to small molecules targeting RNA to modulate the expression of proteins.
• Monoclonal antibodies, therapeutic antibodies specially selected and designed to bind and modify the activity of disease-related targets. Monoclonal antibodies represent one of the most important pharmacological advances in the world over the last two decades.

Both in the field of oncology and neurology, our research efforts on rare diseases represent a major medical innovation potential. Progress in precision medicine allows us to approach these diseases through the prism of innovative therapeutic approaches, to be able to offer new treatment perspectives to patients.

---

[1] https://www.rarediseaseday.org/what-is-a-rare-disease/ (consulted in January 2025)
[2] FDA : https://www.fda.gov/patients/rare-diseases-fda#:~:text=on%20rare%20diseases%3F-,What%20is%20a%20rare%20disease%3F,drugs%20to%20treat%20rare%20diseases (consulted in January 2025)
[3] https://sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/article/les-maladies-rares (consulted in January 2025)
[4] https://www.embl.org/news/science/model-organism-data-rare-diseases/ (consulted in January 2025)
[5] https://sante.gouv.fr/soins-et-maladies/prises-en-charge-specialisees/maladies-rares/article/journee-internationale-des-maladies-rares-432146#:~:text=Ainsi%2C%20une%20journ%C3%A9e%20internationale%20est,lieu%20le%2029%20f%C3%A9vrier%202024 (consulted in January 2025)
[6] https://alliance-maladies-rares.org/nos-combats/ (consulted in January 2025)
[7] Movementdisorders.org– https://www.movementdisorders.org/MDS/For-Clinicians/Rare-Movement-Disorders.htm (consulted in January 2025)
[8] Mayo Clinic – https://www.mayoclinic.org/diseases-conditions/movement-disorders/symptoms-causes/syc-20363893 (consulted in January 2025)
[9] Cleveland Clinic – https://my.clevelandclinic.org/health/diseases/neuromuscular-disorders (consulted in January 2025)