FDA approves gene-editing treatment for sickle cell disease

The U.S. Food and Drug Administration granted approval on Friday for a revolutionary gene-editing treatment designed to address sickle cell disease, a painful affliction impacting around 100,000 individuals in the United States, with a higher prevalence among people of color. This innovative therapy aims to rectify the gene responsible for the debilitating condition.

The approval brings newfound hope to individuals like 15-year-old Johnny Lubin from Connecticut, who has battled the severe effects of sickle cell disease since infancy, enduring excruciating pain and health complications. Lubin, who inherited the sickle cell gene from both parents, faced a grim prognosis from doctors, with a life expectancy not extending beyond 40.

For over a decade, Lubin navigated in and out of hospitals, counting each visit and experiencing the full spectrum of complications associated with sickle cell disease, including bone deterioration, strokes, and organ failure.

Johnny’s parents, Fabienne and J.R. Lubin, sought a solution desperately and discovered a cutting-edge clinical trial involving gene editing—a process eliminating the need for a donor. The treatment, named Casgevy, was developed jointly by Boston-based Vertex Pharmaceuticals and CRISPR Therapeutics.

The procedure involved extracting stem cells from Lubin’s bone marrow, administering chemotherapy to eradicate abnormal cells, and utilizing CRISPR technology in a laboratory to augment the production of protective fetal hemoglobin. These edited cells were then reintroduced into Lubin’s bloodstream.

Dr. Monica Bhatia, chief of pediatric stem cell transplantation at NewYork-Presbyterian/Columbia University Irving Medical Center and Johnny’s doctor, emphasized the reprogramming of cells to produce fetal hemoglobin, known for its protective properties against severe sickle cell symptoms.

After a challenging five weeks in the hospital and a six-month hiatus from school, Lubin has experienced a significant improvement in health, fostering optimism for an extended life. Despite this progress, experts caution that long-term observation of patients is essential before declaring it a cure.

Additionally, the high cost of gene editing, expected to reach several million dollars per patient, raises considerations about its widespread accessibility. Furthermore, the treatment does not preclude the passing down of the gene to future generations.