Father and son

Rare diseases

Empowering the lives of patients with rare diseases

Life is a health journey for patients affected by rare diseases. The rarity and complexity of these conditions can make them difficult to diagnose and treat. This can take both a physical and emotional toll on patients and their families.

80% are genetic - Approximately 7,000 rare diseases - Less than 5% of rare diseases have a treatment

Our global specialty care business unit, Sanofi Genzyme, has been a pioneer in rare diseases for more than 35 years by developing enzyme replacement therapies for the treatment of lysosomal storage disorders.

We continue to focus on being transformative in rare diseases: developing therapies, supporting research and offering innovative solutions that have the potential to offer meaningful change to those impacted by rare diseases. Our commitment to provide patients, including those in emerging markets (1), with healthcare solutions goes beyond product to offering services and support that complement our therapies. This includes:

  • Sponsoring registry programs for Gaucher disease, Fabry disease, MPS I and Pompe disease to collect real-world data in order to advance the medical understanding of these diseases.
  • Improving the diagnosis of rare diseases through physician education, awareness programs and support for testing and screening initiatives.
  • Working with patient organizations worldwide to advocate for and address the needs of patients with rare diseases.
  • Supporting a global humanitarian program to facilitate access to treatment for patients who have a demonstrated medical need in circumstances where treatment access is limited.

Pushing boundaries through biotechnology

Our expertise in the development of therapies for rare diseases that can be progressive, severely debilitating and life-threatening started with lysosomal storage disorders including Gaucher, Fabry, MPS I and Pompe diseases. This is still an important focus for us and we have also expanded our focus to include related conditions where high unmet medical need exists.

Some of our current development programs include an investigational second-generation therapy for Pompe disease, an investigational enzyme replacement therapy for Acid Sphingomyelinase Deficiency (ASMD) and an investigational oral therapy for Fabry disease, Gaucher disease type 3 and a genetic form of Parkinson’s disease.

Through our alliance with Alnylam Pharmaceuticals, we are working collaboratively to accelerate the advancement of RNAi (Ribonucleic Acid Interference) therapeutics as a potential new class of innovative medicines for patients around the world with rare genetic diseases. Currently, our alliance with Alnylam is focused in two main areas: hereditary ATTR amyloidosis with polyneuropathy and hemophilia A and B.

To find out more on our work on rare diseases, please visit Sanofi Genzyme website.

(1) Emerging markets: world excluding U.S., Canada, Western Europe (France, Germany, UK, Italy, Spain, Greece, Cyprus, Malta, Belgium, Luxembourg, Portugal, the Netherlands, Austria, Switzerland, Sweden, Ireland, Finland, Norway, Iceland, Denmark), Japan, South Korea, Australia and New Zealand

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