June 19 is World Sickle Cell Day, and a new gene therapy shows promising results to help treat the disease.
Sickle cell disease disproportionately impacts African Americans.
One in every 365 Black babies is born with sickle cell disease, and one in 13 carries the sickle cell trait.
Sickle cell disease is a painful and debilitating genetic blood disorder that causes the red blood cells to become hard and sticky and curved into a “C” shape.
That can cause a range of complications. The hope is this experimental therapy could help prevent those problems using a patient’s own cells.
A normal red blood cell is shaped like a doughnut. The change makes the cells less effective at transporting oxygen in the body.
The clinical trial uses an experimental gene editing therapy to change a person’s own stem cells to correct the mutation responsible for sickle cell disease.
Two of the four patients in the multicenter trial were treated at Cleveland Clinic Children’s Hospital.
“We are seeing really very encouraging results where this patient, that is almost a year now from the gene therapy, has had no pain crisis that occurred after receiving the modified cells, and also in the other patient,” said Dr. Rabi Hanna. “And also hearing from other colleagues who are participating in this clinical trial, who are seeing similar results for their patients.”
Hanna is the principal investigator of the study. He says, along with relief from pain, the patients achieved a normal hemoglobin level, the part of red blood cells that carry oxygen throughout the body.
“Our hope is to achieve functional cure,” Hanna said. “And what I mean, I mean by this functional cure is an ability to not have an impact on your life because it wouldn’t take away the sickle cell from your other organ. It wouldn’t take away the impact of sickle cell that already happened. It will help prevent any future damage that would be caused by the sickle cell.”
The trial hopes to enroll 40 adults ages 18 to 50 with severe sickle cell disease. They will be monitored closely after treatment for up to two years.
Given the complexity of the disease, the therapy is pretty complex as well. Once the patient’s stem cells are removed and edited, they undergo chemotherapy to destroy their remaining cells, and the repaired cells are infused back into the body.
Because they are their own cells, there’s no risk of rejection, but there can be an impact on fertility. But if it’s found to be safe and effective, it could give sickle cell patients real hope toward stopping their disease.
