Rare Diseases R&D

Leading the Way in Rare Disease R&D

Sanofi is committed to discovering, developing, and delivering new options for people with rare diseases. More than 350 million people around the world are affected by diseases that are so rare that they are difficult to diagnose and treat. Patients and their families can endure a long healthcare journey involving tests, misdiagnoses, and consultations with specialty doctors. Sanofi research and development teams are dedicated to shortening this journey by delivering sustainable, transformative healthcare options. 

Leading with innovation

Sanofi has a strong foundation in lysosomal storage disorders: a group of rare, genetic conditions caused by enzyme deficiencies. Its teams are developing pioneering medicines for disorders such as Fabry, Gaucher, and Pompe diseases, and advancing toward new treatments for patients with GM2 gangliosidoses (Tay-Sachs disease, AB variant, and Sandhoff disease) and acid sphingomyelinase deficiency (ASMD). The insights gained from research into rare diseases can have applications for other diseases, for example leading to clinical studies of autosomal dominant polycystic kidney disease (ADPKD) and Alport syndrome.

What motivates our R&D leaders

A conversation with Pablo Sardi and Karin Knobe, who lead rare disease and rare blood disorders research and development at Sanofi

Pioneering R&D

Sanofi's leadership in the rare disease community was established in 1984 with the development of a successful treatment for Gaucher disease, one of the most common lysosomal storage disorders. This came on the back of its breakthrough work in genetic engineering and recombinant DNA manufacturing, which enabled the large-scale production of enzyme replacement therapies (ERTs). ERTs break down the fatty substance that accumulates in the cells of patients with lysosomal storage disorders. The work on Gaucher disease was followed by rapid advances in treatments for Fabry disease, Pompe disease, and Mucopolysaccharidosis I (MPS I), and new investigations into Acid Sphingomyelinase Deficiency (ASMD), for which no solutions are currently available.

Small populations, big impact

Sanofi's long-standing stewardship of multinational disease registries has created a strong center of gravity for patient communities that are sparsely distributed throughout the world. These registries allow physicians to pool clinical and real-world information about diseases that would otherwise be difficult to study. Sanofi researchers work closely with registries to ensure the continuous improvement of existing therapies, identify unmet medical needs of rare disease patients, and discover new research directions for both rare and common diseases.

Rare disease pipeline

Bolstered by strategic acquisitions, Sanofi researchers are working together across geographies and specialties, using a rich technology toolkit to accelerate discoveries in rare disease. Sanofi R&D teams are pursuing several potential treatments that are in clinical development, and our pipeline includes several new approaches to addressing the underlying causes of rare diseases.

Technology toolkit

A broad range of new technologies is reinforcing the capacity of Sanofi's R&D teams to advance new solutions for rare diseases. Across its rare disease pipeline, from early research through development, Sanofi scientists are forging new paths in genomic medicine, synthetic biology, and a range of biologics to pursue practice-changing medicines for rare disease patient communities.

Supporting communities

For many years, Sanofi has demonstrated its commitment to providing services to rare disease patient and healthcare communities, which are often small and have limited resources. 

  • Advocacy: Sanofi’s patient advocacy group works closely with communities to understand their needs and ensure they are heard.
  • Disease registries: Patient insights are critical to scientific progress. Sanofi supports voluntary, global patient registries—secure, organized databases that aggregate health, wellbeing, and medical care information—for Gaucher, Fabry, Mucopolysaccharidosis I (MPS I), and Pompe diseases. These registries collect input from patients and physicians in over 60 countries.
  • Medical information: Our dedicated medical information teams serve healthcare professionals by answering questions about the diseases we treat and our products and providing educational materials to help patients and their families understand the disease.

MAT-GLB-2004284 v 1.0 | January 2021