There are an estimated 350 million rare disease patients across the world. Many conditions still don’t have treatments. However, there are scientists dedicating their lives solely to this endeavor. Sanofi is one of the teams working to improve the lives of rare disease patients. They’ve been doing so for nearly 40 years.
What makes Sanofi unique is that they don’t stop after finding a treatment. They try to find other ways to improve the quality of life of patients. This includes connecting them to advocacy organizations and talking to legislators about how policy could be improved. They also focus on physician education, and providing patients resources which could benefit them.
Their approach is thinking about their work as changing one patient’s life at a time. Partly, this is due to the fact that every patient has different experiences, symptoms, and needs. They know they can’t aid all patients at the same time. But small steps can improve outcomes for individuals across the globe.
Sanofi explains the process of finding treatments as a marathon as well as a sprint. They have to focus on the current generation of therapies as well as the next, always moving forward.
Currently, they’re investigating options for acid sphingomyelinase deficiency (ASMD) which is a progressive lysosomal storage disorder. Patients are deficient in the ASM enzyme which makes them unable to properly breakdown sphingomyelin, a type of lipid. It leads to cell death and can ultimately cause major organ systems in the body to malfunction. This is just one of the rare diseases which currently has no available treatments.
Early work focused on Gaucher disease, another lysosomal storage disorder. Then they moved to Pompe disease, Fabry disease, as well as Mucopolysaccharidosis I (MPS I).
Sanofi also focuses on building community among those living with rare conditions, their families, and the medical field. They explain the role of patient advocacy groups as “crucial.” They help to share information and to create a support system for patients.
Additionally, Sanofi’s work requires patients to hare their experiences and participate in studies. The patient’s expertise and trust are both critical.
You can read more about Sanofi here.