Teaching the Human Body to Cure Sickle Cell Disease

By Sharon King, Advocacy and Community Engagement Manager with Aldevron

Living with the excruciating pain, debilitating fatigue, and other symptoms of sickle cell disease is challenging. Powerful painkillers and blood transfusions can treat some symptoms, but there’s no prescription for the mental, psychological, and emotional toll. Only a cure will change all that for patients – and their families. When an individual is diagnosed with any type of disease, it becomes a family disease, according to James Griffin.

A sickle cell SS patient, advocate, and author of “Breaking Silence: Living with Sickle Cell Anemia,” Griffin credits his family, his “critical support team,” with helping him cope and manage living with such a severe condition.

“Sickle cell SS is the most severe form of the disease, causing complications that require frequent blood transfusions, hospitalizations, and the need for pain medications,” said Griffin. “Because I live with the most severe form, I have to constantly work to stay healthy. I drink a lot of water, exercise and maintain a healthy diet, so I can minimize the risk of pain crises.”

Some good news this September, National Sickle Cell Awareness Month, is a cure could be one step closer for the estimated 100,000 people in the U.S. and approximately 20 million people worldwide living with the disease.

Sickle cell disease is a group of inherited disorders that affects the shape of red blood cells, which carry oxygen to all parts of the body. Much is known about the disease, and novel cell therapies are being developed to cure the illness, not merely address symptoms. One base pair mutation on chromosome 11 in human DNA is now being selectively modified to correct the faulty cells.

“This is the new wave of medicine because it’s solving the root cause of a disease at the molecular DNA level. It’s exciting,” says Tom Foti, vice president and general manager of the Protein Business Unit at Aldevron.

Chasing the Cure

A new cell-based therapy for sickle cell is undergoing human drug trials and awaiting Food and Drug Administration (FDA) approval for commercial use. This approach could ultimately lead to treatments for many other diseases, including rare diseases that often are not a focus for biopharma companies.

The treatment is complicated, takes time, and must be created for each person—it’s not an off-the-shelf drug. Bone marrow is removed from the patient and then genetically modified. Billions of the altered cells are infused back into the body with the goal of producing new cells that will compensate for the defective hemoglobin. More than 200 people with different types of sickle cell disease have been treated. Some were able to discontinue the transfusions that kept them alive and at least one remains symptom-free even four years after completing treatment.

Such astonishing results begin with scientists in a laboratory with highly specialized materials. Aldevron provides some of the raw materials that are used in basic research throughout clinical trials and the commercial supply chain.

Foti explains, “To facilitate this process, we decided to produce off-the-shelf nuclease required for working with DNA so that individual clients wouldn’t have to commission $2 million custom gene-editing production.” The first company to file a drug master file with the FDA to help streamline approval, Aldevron is actively supporting the drive to make this kind of treatment cost-effective.

Several institutes and biotech organizations are focused on creating a safe, effective sickle cell treatment. The more minds working to solve the problem in different ways, the greater the chances of success, according to Foti.

Advocacy = Success

To ensure the company stays in touch with people who will ultimately benefit from this work, Aldevron created a department of Advocacy and Community Engagement. Speakers and presenters frequently meet with staff to share their experiences, concerns, and obstacles for people living with various conditions. After meeting Griffin at a medical conference, Foti invited him to speak to his team.

Describing himself as “a fighter,” Griffin described the painful isolation and mental health challenges the disease causes. He detailed the critical role community support services and affordable drug programs play. Clinical trials are paving the way to transformative treatments. Still, the tough questions of equity and access require an awareness of the disproportionate impact the disease has on the population most affected – African Americans.

These frank and thoughtful interactions help employees make a connection between their work and the people they serve. But equally important is the way they inform the company focus to quickly meet the demand for raw materials that will follow FDA approval. Scaling up production effectively is essential to make the treatment widely available.

“We’re figuring out how to scale the therapy that’s now on the horizon,” says Foti. “Right now less than a thousand patients have been treated. How do you treat 50,00 to 100,000 people in the U.S. alone?” An emphasis on making the therapy cost-effective is equally important to ensure access to a life-changing treatment.

A successful sickle cell disease treatment will pave the way for cross-cell and gene therapies for rare diseases, creating a template for the development, manufacture, and sale of personalized medicine.

“Just hearing this makes me want to continue to do what I do,” Griffin shared. “It’s an exciting time, because so many scientists and companies want to help people with sickle cell. I grew up in the 90s, and there was nothing about sickle cell. Now we have technology that may cure sickle cell. Seeing how much we’re progressing now gives me so much hope.”

 

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