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Perseverance in Rare Diseases

There are 7,000 known rare diseases in the world that collectively affect 350 million patients. For these patients and their families, the journey can be long and challenging. Sanofi has pledged to help improve the care, the health and the lives of people affected by a rare disease for nearly 40 years. Even when a therapy is available, Sanofi continues to find ways to do more to advance patient care. Its approach is simple and rooted in perseverance–one family at a time.

Each person living with a rare disease has a different experience and, sometimes, drastically different needs. Symptoms and complications can be difficult and even life-threatening with few, if any, treatment options available.

"Historically, Sanofi has been a trailblazer in providing treatments for people with rare diseases, but it is far too early to declare victory in the fight against these disorders. For us, this battle is both a marathon and a sprint,” said John Reed, Executive Vice President, Global Head of Research & Development at Sanofi. “We must focus on developing potential new treatments while we concurrently investigate treatments for rare diseases where treatment options do not currently exist. Patients inspire us to persevere in our efforts.”

Searching for a treatment for acid sphingomyelinase deficiency (ASMD)

ASMD is a rare, progressive and potentially life-threatening lysosomal storage disorder (LSD) that results from the deficient activity of the enzyme acid sphingomyelinase (ASM). This enzyme is normally found in special compartments within cells called lysosomes and is required to breakdown lipids—a fatty substance in the cell—called sphingomyelin. If ASM is absent or not functioning as it should, sphingomyelin cannot be metabolized properly and accumulates within the cell, eventually causing cell death and the malfunction of major organ systems.

Watch JJ share his personal experience living with ASMD

While there are currently no treatments available for patients living with ASMD, Sanofi scientists continue to leverage their expertise in LSDs and enzyme replacement therapies to find one. Patients like JJ, who are living with these difficult conditions, inspire our work in the lab and beyond.

Investigating potential new therapies

The first ten years of Sanofi’s research in rare diseases focused primarily on finding a treatment for one type of LSD called Gaucher disease. Its success established Sanofi’s leadership in the rare disease community. Over the next two decades, the company expanded its focus to include other LSDs including Fabry disease, Pompe disease, and Mucopolysaccharidosis I (MPS I).

However, it did not stop once a treatment was discovered.

“We don’t retire with success. Instead we ask ourselves how we can do more,” said Sebastien Martel, Global Head of Rare Diseases. “Our perseverance is exemplified by our exploration of potential new therapies for rare diseases. We are constantly challenging the status quo by asking how we can best support the needs of patients with medicine and beyond.”

Providing support beyond treatment

Living with a rare disease can be isolating and lonely, so it is equally important to support each patient by connecting them and their families to each other and to advocacy organizations.

“As we develop potential new therapeutic options for people living with rare diseases, the role of patient advocacy organizations is core to our mission and crucial to our success. From imparting their expertise and sharing their experiences to shaping and participating in clinical trials, the patient advocacy community’s contribution to our work is invaluable,” said Pamela Graves-Moore, Global Head of Public Affairs and Patient Advocacy for Rare Diseases at Sanofi. “We are grateful for the rare disease patient community’s contributions, trust and cooperation.”

Photo of Fabry disease sisters - Christy, Heather, Michelle and Tami
From L-R: Heather, Tami, Christy and Michelle, four sisters who all suffer from Fabry disease–photographed together in 2019

Creating a sisterhood of support was always an important way of coping for sisters Christy, Heather, Michelle and Tami, who face the challenges of living with Fabry disease. “We could see the impact of Fabry disease on our father and uncles, and we were able to share information and support with each other–and that made a tremendous difference,” said Christy.

Her sister Tami adds, “You learn very quickly that Fabry disease affects every part of your life. Whether it is being a wife or mother or having a career, there are certainly days when I feel like I dropped the ball.”

Sanofi believes in the power of supporting health from the molecular level to emotional and social wellness. With approximately 350 million people living with a rare disease across the globe, this task can seem daunting. Sanofi’s approach is simple—one patient at a time; one family connected to necessary resources; one physician educated; one advocacy organization supported; and one legislator informed.

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