A 21 year old man in New York has been cured of sickle cell anemia following treatment with a pioneering gene therapy, according to his doctors.
New York resident Sebastien Beauzile was treated with a pioneering new gene therapy approach called Lyfgenia, developed by biotech company Bluebird Bio. Mr Beauzile received the treatment on December 17th 2024 and has not had any symptoms of sickle cell anemia since, leading his doctors to believe that the treatment has likely cured the disease.
Sickle cell anemia is a serious, inherited disorder of red blood cells which mostly affects Black and Hispanic people. There are over 100,000 people with the disorder in the U.S. and the condition causes a range of symptoms including blood clots and strokes and a resultant reduction in lifespan of 20 years on average.
It is caused by inheriting defective copies of a hemaglobin gene causing hemaglobin, which carries oxygen in red blood cells to be sub-functional. The defect causes red blood cells in affected people to be sickle, or crescent shaped instead of disc shaped as normal, limiting the cells’ ability to carry oxygen. Sickled red blood cells are also more prone to clump together and cause blockages to blood vessels, causing severe pain and tissue damage.
“Sickle cell is a debilitating, often-overlooked disease. But treatments like Lyfgenia are changing that,” said Jeffrey Lipton, MD, chief of the division of pediatric hematology/oncology & stem cell transplant at Cohen Medical Center in Queens, New York.
Lyfgenia works by extracting the patient’s own blood stem cells, genetically modifying them using a virus to paste copies of functional hemaglobin into the cells and then giving the patient chemotherapy to clear out the old, dysfunctional cells before infusing the new, modified ones back into the body. The red blood cells then produced from the transplanted, modified blood stem cells are then completely normal.
Mr Beauzile is not the first person to be successfully treated with Lyfgenia in the U.S. Lyfgenia and another genetic-modification based cell therapy for sickle cell anemia, Casgevy (Vertex pharmaceuticals) were both FDA-approved in late 2023 for the treatment of sickle cell anemia in patients 12 and older, following impressive clinical trial results.
In the Lyfgenia trial which led to the drug’s approval, 88% of 32 patients treated with the therapy ranging in age from 12 to 50 years old had complete resolution of their symptoms between 6-18 months after receiving the drug.