Lavanaya, living with Mucopolysaccharidosis I, India

There are more than 7,000 different rare diseases, collectively affecting more than 350 million people around the world.

Because they are so rare, these conditions are difficult to diagnose and treat. Patients can endure a long journey involving tests, misdiagnoses, and consulting specialty doctors. Focusing on these uncommon and underserved medical conditions, Sanofi’s rare disease franchise empowers the lives of patients with rare diseases by offering sustainable, transformative health care options.

Built up over the years through in-house development and strategic acquisitions and partnerships, Sanofi’s Rare Disease franchise focuses on lysosomal storage disorders (LSDs)—a group of rare genetic conditions caused by enzyme deficiencies—and other rare conditions.

Every area of our rare disease franchise serves small patient populations through personalized care and highly specialized products.

Inspired by patients around the world

Above from left to right: Alfie, acid sphingomyelinase deficiency, United Kingdom; Hsieh, Fabry disease, Taiwan; Ingo, Pompe disease, Australia

Pioneering research of lysosomal storage disorders

Lysosomal storage disorders are a cornerstone of Sanofi’s business, and the medical area for which it is most well-known. These disorders are known as “orphan diseases” and affect only a few thousand people worldwide.

The first ten years of research focused primarily on finding a treatment for a LSD called Gaucher disease, the success of which established Sanofi’s leadership in the rare disease community. Over the next two decades the company expanded its focus to include other LSDs including Fabry disease, Pompe disease, and Mucopolysaccharidosis I (MPS I). Sanofi’s breakthrough work in genetic engineering and recombinant DNA manufacturing has enabled the large-scale production of enzyme replacement therapies (ERTs). ERTs work by breaking down the fatty substance that accumulates in cells due to the lack of native enzyme.

Ongoing innovation

Sanofi continues to focus on LSDs and addressing the needs of the rare disease community. We are researching Acid Sphingomyelinase Deficiency (ASMD),, which currently has no treatments available, as well as therapies for other LSDs. Some of our current development programs include an investigational second-generation therapy for Pompe disease, an investigational oral therapy for Fabry disease, Gaucher disease type 3, autosomal dominant polycystic kidney disease (ADPKD), and a genetic form of Parkinson’s disease. We’re also applying our genetic expertise to new forms of treatment delivery such as oral therapies as compared to traditional intravenous infusion therapies.


Sanofi’s expertise includes supporting diagnosis, treatment, and ongoing monitoring for certain thyroid cancers.

Supporting services

Because of the rarity of many of the diseases we treat, the patient and healthcare communities are small and often have limited resources. To support them, Sanofi is committed to providing services that complement our therapies

  • By establishing registries—large, often multinational databases to which physicians contribute clinical data on patients—for several LSDs, we help pool knowledge and improve understanding of rare diseases that would otherwise be difficult to study.
  • We develop a wide variety of educational materials, both in print and online, for patients and their families as well as healthcare professionals.
  • Our patient advocacy group is deeply involved in the patient communities, working to understand and advocate for their needs.
  • Our medical information team is dedicated to answering questions about the diseases we treat and our products.

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22 January 2020