For more than 5,000 years, sickle cell disease (SCD) has caused untold suffering in people of African descent. In patients with the genetic illness, red blood cells are not round but crescent-shaped — like a sickle — and can clog blood vessels, depriving the body of oxygen and causing tremendous pain. For a long time, the only cure has been a bone marrow transplant, but new gene-editing techniques now may offer a safe and effective alternative.
In research conducted at Boston Children’s Hospital, scientists used a virus to switch off the gene that triggers cells’ sickling, according to a January 2021 study. The patients subsequently produced healthy red blood cells — and nearly all were able to discontinue the blood transfusions SCD often requires.
“One participant used to have transfusions every month but has not needed any in three years,” says David Williams, MD, chief of the Division of Hematology/Oncology at Boston Children’s and head of the research team. “This has completely changed his life.”
The study followed six patients for a median of 18 months and found that the treatment completely halted the disease’s more severe symptoms.
“I’m so happy for my sickle-cell patients. This is a terrible disease,” notes Williams.
Next up for Williams is a trial with 25 patients. Meanwhile, SCD researchers elsewhere are studying other gene-editing techniques. “All these approaches look promising, and we need a lot more research to determine if one or another is better,” Williams says.
“This is a very exciting time. In the past, we haven’t had any particularly good treatments, and now we have several possibilities,” he adds.
