Rare diseases

Rare diseases are difficult to diagnose and treat. There are many barriers to a timely diagnosis. Patients and their families often endure a long journey involving specialty doctors, tests, and misdiagnoses. Focusing on these uncommon and underserved medical conditions, Sanofi’s Rare Diseases franchise is committed to offering sustainable, potentially transformative healthcare options and aspires to achieve better care for rare.

Brian, one of the first patients treated for Gaucher disease, stands in a modern medical or pharmaceutical facility wearing a dark blazer over a light shirt. He rests his hand on a metal railing while positioned among industrial-scale scientific equipment, including stainless steel pipes, processing machinery, and a large green machine visible in the background. The high-tech laboratory setting with its sterile, industrial atmosphere reflects the advanced biotechnology used in rare disease treatment.

Brian, living with Gaucher disease. Brian is one of the first patients treated for Gaucher disease

With over 40 years working alongside the rare diseases community, Sanofi is grounded in both the science behind these conditions and the experiences of the people who face them. We proudly maintain one of the largest rare diseases pipelines in the industry across multiple disease modalities.

In the United States, we currently have approved products for patients with Fabry disease, Gaucher disease type 1, Gaucher disease type 3, Mucopolysaccharidosis (MPS) disease type 1, Pompe disease, and Acid sphingomyelinase deficiency (ASMD).

Nikita Khadse and Natalia Vargas, Sanofi scientists, collaborate in a bright laboratory in the United States. Both women wear blue lab coats while engaged in discussion. Nikita (left) wears safety glasses and a purple shirt, focusing on lab equipment, while Natalia (right) wears eyeglasses and looks toward her colleague. Behind them, test tubes line the lab bench and a glass wall reveals green trees outside, creating a naturally-lit research environment.

Nikita Khadse and Natalia Vargas, Sanofi Scientists, United States

We pledge to continue to advance sustainable access to better treatments, deliver the standard of care to improve lives, transform the diagnostic odyssey, and build meaningful connections with our rare diseases community.

Even when a treatment has been proven tolerated and effective, Sanofi continues to research therapies that will improve 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 rare diseases. This includes research in other nephrological, neurologic, metabolic and neuromuscular rare diseases.

Portrait of Anna, a woman with long wavy black hair, standing on a beach and smiling at the camera. She wears an orange lace-detailed blouse, white floral skirt, and a pendant necklace. The background shows a blurred beach scene with sand, ocean, and buildings under a partly cloudy sky.

Anna, living with ASMD

CareConnect Personalized Support Services (PSS)

CareConnect (PSS) is an individualized support program sponsored by Sanofi for people with certain rare diseases and their families and offers personalized support throughout the rare disease journey. CareConnect offers a dedicated team, personalized disease education, information about treatment options, and resources that can help eligible patients with access to treatment.

Learn more

TORCH Awards

Sanofi’s TORCH Awards is a recognition program celebrating champions in the rare disease and rare blood disorders communities. Launched in 2017, this prestigious awards program honors individuals who have made exceptional contributions to rare disease advocacy, awareness, and support.

Learn more about the TORCH Awards