UIC part of groundbreaking sickle-cell study 

In December 2023, when the FDA approved a gene-editing treatment for sickle cell disease for some patients, it marked a major step for medical research. 

Now the final results from the clinical trial that led to the drug’s approval have been published in the New England Journal of Medicine. The findings show the therapy reduces symptoms of the disease that can cause pain severe enough to require hospitalization. 

The paper — which reports data from the two-year clinical trial that took place at 16 sites in Europe and North America, including the University of Illinois Chicago — was coauthored by UIC’s Dr. Damiano Rondelli, chief of the division of hematology/oncology in the College of Medicine and a member of the University of Illinois Cancer Center. He also treats patients with sickle cell disease at UI Health.

Sickle cell disease is a painful and potentially deadly condition that causes the hemoglobin cells in a person’s blood to become sickle-shaped. The treatment, called exagamglogene autotemcel, or exa-cel, uses cutting-edge CRISPR technology to take blood stem cells from patients, modify their DNA to reactivate fetal hemoglobin production, then infuse those cells back into the patient’s body. It is approved for patients ages 12 and older who have sickle cell disease with recurrent vaso-occlusive crises, which are episodes of severe pain.

The trial followed 30 participants who experienced vaso-occlusive crises that required hospital admission at least twice in each of the two years before the study. These crises happen when the sickle-shaped cells block blood flow to a person’s tissue, depriving it of oxygen and causing inflammation. The researchers transplanted the gene-edited stem cells into patients and then monitored the patients, who ranged in age from 12 to 35. 

Of the 30 patients, 29 had no vaso-occlusive crises for at least 12 consecutive months after receiving the treatment.

The paper reports the results of the trial, including any adverse events. Its authors conclude, “Treatment with exa-cel eliminated vaso-occlusive crises in 97% of patients with sickle cell disease for a period of 12 months or more.”