Jodie, cold agglutinin disease, USA

Rare Blood Disorders Need More Attention



Jodie, a mother of two teenage boys, suffers from a rare blood disorder called cold agglutinin disease (CAD). She’s one of an estimated 10,000 patients in the US and Europe living with this type of severe autoimmune hemolytic anemia.  In CAD, the body’s immune system mistakenly generates antibodies against its own healthy red blood cells, continually destroying large numbers of them and thereby causing chronic hemolysis and anemia. And there are many more people living with CAD in other parts of the world.

It started with what Jodie thought was just a cold, but she was also significantly more tired during activities than normal. After five years, Jodie was finally diagnosed with CAD. 

When I finally received a diagnosis, it was empowering. And then I felt scared and angry, because I had been kicking and screaming and crying to everybody that would listen, ‘Hey, something’s not right, something’s off with my body’,” she remembers.

Jodie feels that people genuinely don’t understand the severity and huge impact CAD can have. People with CAD may suffer from debilitating fatigue, poor quality of life, and also have an increased risk of life-threatening events like stroke and heart attack. 

I've gone from being very active on a regular basis to days when I can barely walk to my own car without losing my breath. This impacts everything about my life," said Jodie, who is in her mid-forties. 

It is not just sufferers of CAD who are looking for new treatment options to raise current standards of care. There are many other types of rare blood disorders, including sickle cell disease, the most common inherited blood disorder where some red blood cells are shaped like sickles, causing potential damage throughout the body and pain; and hemophilia, a bleeding disorder where the blood does not clot normally. 

To help find solutions for patients like Jodie, Sanofi has built a Rare Blood Disorders franchise focused on advancing therapies that can address serious unmet needs for people living with rare blood disorders and expanding global patient access to our medicines. Our new franchise unites deep expertise in hematology, a history of innovation, and a promising pipeline from Bioverativ and Ablynx with our research collaboration with Alnylam Pharmaceuticals.

We learn by listening to the people – patients, caregivers, physicians, payers, and advocacy groups - who make up the hematology community,” said Bill Sibold, Executive Vice President, Sanofi Genzyme. “Our work is guided by a desire to make a meaningful difference in their lives, and apply what we learn from their experiences.”

Sanofi Genzyme has a strong legacy of leadership as a pioneer in rare diseases that are often difficult to diagnose and treat and we are now building on that legacy with our new Rare Blood Disorders franchise to really give focus and attention to those diseases,” said Simone Azevedo, Global Head of Public Affairs for Rare Blood Disorders at Sanofi. “We have a responsibility to bring treatments to patients around the globe with the hope that we can help transform their lives.”

Our hemophilia portfolio has the potential to further advance upon this commitment. 

Hemophilia is a rare genetic disorder in which a person’s blood does not clot normally because of insufficient levels of certain clotting factors. People with hemophilia may bleed spontaneously or for a prolonged period of time after an injury due to deficient clotting. While hemophilia is most often an inherited condition, almost a third of people diagnosed do not have a family history. There are an estimated 400,000 people worldwide living with hemophilia, however, 75% do not have access to adequate treatment or care. 

While hemophilia is well known in established markets such as the US and Europe, this is not the case in emerging or less developed markets. In these regions, many people may never receive a diagnosis, let alone treatments, due to a lack of access to healthcare and knowledge of the disease. 

This is why we are committed to help transform the treatment of hemophilia in the developing world, where the vast majority of people with severe hemophilia have limited or no access to diagnosis and treatment and often don’t survive to adulthood. Together with Sobi, an international rare diseases company, we have pledged the single largest donation of hemophilia factor therapy in history.

Another area of focus for this franchise is acquired Thrombotic Thrombocytopenic Purpura (aTTP), a rare, life-threatening autoimmune blood disorder characterized by extensive clot formation in small blood vessels throughout the body, leading to very low platelet counts, destruction of red blood cells, and restricted blood supply to parts of the body.

Each of these rare blood disorders is unique, making the road to diagnosis and adequate treatment a sometimes difficult journey. 

We have a strong pipeline focusing on areas of unmet need in the rare blood disorder community, including hemophilia, cold agglutinin disease, sickle cell disease, and beta thalassemia. 

Our mission at Sanofi, for Jodie, and for the countless rare blood disorder patients around the world, is to find new treatment options that will help them to live better lives. 

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