Rare Diseases



Innovating in Rare Diseases

At Sanofi, we believe life is a health journey full of ups and downs. For those who were born with rare genetic disorders, this health journey is full of challenges big and small. 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.

Our global specialty care business unit, Sanofi Genzyme, has been a pioneer in rare diseases for more than 35 years. And after all that time our transformative work continues to focus on 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 providing rare disease patients, including many in the Philippines, with healthcare solutions goes beyond treatments 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

At Sanofi, we develop therapies for rare diseases that can be progressive, severely debilitating and life-threatening, including lysosomal storage disorders such as Gaucher, Fabry, MPS I and Pompe diseases. This is such an important focus for us that we have since expanded to include related conditions where high medical need exists.

Some of our ongoing research includes 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 the Sanofi Genzyme website.



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