Transformative. That’s how the hematology team at the University of Maryland Medical Center (UMMC) describes a new gene therapy treatment used to treat sickle cell disease. It works by using a patient’s own stem cells, which are collected and then genetically modified in a lab to produce an anti-sickling form of hemoglobin. The cells are then delivered back into the patient’s body.
Jean Yared, MD, a hematology oncologist and associate professor of medicine at University of Maryland School of Medicine, says it’s too early to know if the treatment is a cure, but he adds with certainty, “It does transform a patient’s life, and in my book, it is a definitive treatment.”
A Life-Changing First Step
Jessica Ceja lived with sickle cell disease for nearly 40 years. “It’s a tremendous amount of constant pain,” she says.
Sickle cell disease is an inherited blood disorder in which abnormally shaped, “sickled” red blood cells get stuck in blood vessels, causing severe pain and cutting off circulation to the body and organs. The disease affects millions of people worldwide, and Maryland has a high prevalence, with more than 5,000 people living with it. It most commonly affects people of African descent but also occurs in Hispanic, Mediterranean, Middle Eastern and South Asian populations.
In her journey, Ceja has tried every type of treatment. Her hematologist in the community suggested she connect with UMMC for more advanced options. At first, she explored a stem cell transplant, but she could not find a suitable donor. That’s when her medical team identified the newly FDA-approved gene therapy as the right option because it would use her own cells.
“They needed to collect about 3.2 million cells from me,” Ceja notes. Those cells, which can be collected over time, are then sent to a lab, where they are genetically modified over several weeks or months. Ceja then had to undergo chemotherapy to wipe out her immune system before her own modified cells could be put back into her body.
As Jennie Law, MD, hematology oncologist and associate professor of medicine, explains, “Not every sickle cell patient has severe enough disease complications that they would merit going through such an intensive process. Patients need to be sick enough that they would be willing to consider all the time and effort associated with this therapy.” Currently, the treatment is approved for patients over the age of 12 who have severe, recurrent vaso-occlusive events that are not adequately controlled with standard treatments.
For Ceja and her family, the potential benefits outweighed the risks. “This wasn’t an easy decision, but I was willing to take a chance. With the cells back in my body, it’s a waiting game, and I am still crossing my fingers that it continues to work,” adds Ceja, whose hemoglobin continues to improve. For now, she says getting out of bed in the morning is a lot less painful.
A Second Patient Sees New Possibilities
Ese Sifo, the second person and first man in Maryland to receive gene therapy, is also seeing an increase in his hemoglobin. “My whole life, I have been at a 7 or 8 at its best, and now I am at a 12.5. My mind is totally blown. I can’t believe it,” says Sifo, who is 45 years old. In fact, 12 to 16 is considered a normal hemoglobin level for an adult.
“I’m a creature of habit, and so I just stuck with medical management. Then, all of a sudden, there was something else to try,” explains Sifo. Now, he says the crisis pain he has lived with forever is gone. “I have dreamt of days like this, and for me, this feels very similar to what a cure would look like,” adds Sifo.
Expanding Access for Sickle Cell Warriors
“We want to increase the number of patients who have access to curative treatments, not just gene therapy, but also stem cell transplantation,” says Enrico Novelli, MD, sickle cell program director and professor of medicine. He is leading an initiative across the University of Maryland Medical System to expand access to care for patients he calls “sickle cell warriors.” He adds, “If we can’t cure the disease, we certainly want to improve their quality of life with nearby access to all the advanced and wraparound care they need.” For patients like Ceja and Sifo across Maryland, it means the possibility of less pain, fewer limits and a better quality of life.