Rare Diseases

Ailin, Gaucher disease, Cuba

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

Given their rarity, these conditions are difficult to diagnose and treat. Patients can endure a long journey involving specialty doctors, tests, and misdiagnoses. Focusing on these uncommon and underserved medical conditions, Sanofi Genzyme’s Rare Disease franchise is committed to empowering the lives of patients with rare diseases by offering sustainable, transformative healthcare options.

Lysosomal storage disorders (LSDs)—a group of rare genetic conditions caused by enzyme deficiencies—are a cornerstone of Sanofi Genzyme’s business, and the medical area for which it is most well-known.  

Over the past 40 years, Sanofi Genzyme has developed different therapies for the treatment of many rare diseases. Its first area of focus was Gaucher disease and in the past two decades Sanofi Genzyme expanded its focus to Fabry disease, Pompe disease, Mucopolysaccharidosis I, and acid sphingomyelinase deficiency. 

Even when a treatment has been proven tolerated and effective, Sanofi Genzyme continues to research therapies that will improve on the standard of care. This means building on its scientific understanding and striving to develop more therapies with the potential to improve the lives of those living with LSDs and beyond, including research in other nephrological, neurologic, and neuromuscular rare diseases.

Inspired by patients worldwide
Alfie, acid sphingomyelinase deficiency, United Kingdom
Hsieh, Fabry disease, Taiwan
Ingo, Pompe disease, Australia

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

Research & Development

Expanding both within and beyond its traditional core area of LSDs, Sanofi has one of the largest rare disease pipelines in the industry across multiple diseases and modalities.

Humanitarian Program

Sanofi Genzyme’s rare disease Humanitarian Aid program provides free treatment to qualifying patients.


Rare Disease Registries

These large, often multinational databases of clinical data aggregate knowledge to help improve understanding of rare diseases that would be otherwise difficult to study.

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