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Rare diseases

Two scientists in a laboratory
Approximately 7000 estimated number of rare diseases worldwide. 80% of them are genetic. 65% are sever, chronic or progressive and degenerative.

The quality of life of a patient living with a rare disease may be severely limited due to loss of autonomy and the progressive, debilitating aspects of the disease. The rarity and complexity of patients’ medical conditions can make a rare disease difficult to diagnose and treat, leaving patients feeling isolated. Fortunately, thanks to innovations in biotechnology there are an increasing number of targeted therapeutic treatments available. Beyond this, reaching out to fellow patients is crucial in providing individuals and their families with psychological support and hope.


As a pioneer and leader in enzyme replacement therapies, Sanofi Genzyme is committed to finding new therapeutic solutions for patients who may have no other alternatives. We pioneered the first enzyme replacement therapy to treat Gaucher disease in 1984, transforming the lives of patients and at the same time setting the standard for treating the condition.

Our breakthrough research in genetic engineering and recombinant protein manufacturing has enabled us to develop targeted therapies for several previously untreatable LSDs, including Gaucher disease, Fabry disease and Pompe disease.  More recently we began clinical trials for an investigational therapy for the treatment of nonneurological manifestations of acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease type B. This process took the form of translational medicine, with an in-depth investigation into the underlying causes of the disease and the needs of the patient community.

Though it has taken years of commitment from scientists to begin realizing the potential of gene therapy, we believe it will lead to transformational applications for patients in need of treatment options.


Sanofi Genzyme has been an active partner with the communities we serve for over three decades. Driven by our commitment to patients, we strive to develop strong relationships with patient communities and listen to their perspectives so that we can truly understand their needs. These collaborations guide us as we continue to push the boundaries of medicine and technology to develop new and better therapies where none existed before.