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Patient Cured of Sickle Cell Anemia With Innovative Gene Therapy
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The patient is the first to be cured using lovotibeglogene autotemcel, a novel cell-based gene therapy.
For the first time, a patient in the United States has been cured of sickle cell anemia (SCD) using a groundbreaking gene therapy. Sebastien Beauzile, a 21-year-old from New York, received lovotibeglogene autotemcel (Lyfgenia; Bluebird Bio Inc) on December 17, 2024, and has been free of symptoms ever since. His medical team believes this marks a true cure, offering new hope to thousands living with the debilitating genetic disorder.1
Sickle cells and normal cells in blood stream | Image Credit: © Arugula Pica - stock.adobe.com
“This is a fix,” said Jeffrey Lipton, MD, the center’s director of pediatric hematology oncology and stem cell transplantation, told the New York Post. “Other drugs modify the disease, but this is a cure... I suspect this will replace bone marrow transplants in time.”2
SCD refers to a group of inherited disorders that affect hemoglobin, altering its shape into a crescent or “sickle” shape as a result of a genetic mutation. Normal, healthy red blood cells are disc-shaped and flexible, making it easy for them to maneuver throughout the blood vessels. However, sickle-shaped cells do not bend as easily and can impair blood flow. SCD primarily affects Black and Hispanic individuals; according to the CDC, SCD occurs in approximately 1 out of every 365 Black infants and about 1 out of every 16,300 Hispanic infants.3-5
Until the development of novel gene therapies, there were no curative options for patients with SCD. Standard treatment for SCD is primarily focused on symptom management through use of hydroxyurea to reduce sickling of red blood cells and prevent serious symptoms associated with SCD. Other agents typically used are L-glutamine, OTC and prescribed painkillers, and crizanlizumab-tmca (Adakveo, Novartis). However, emerging gene therapies with curative capabilities offer renewed hope for patients with SCD.4
Lovotibeglogene autotemcel is a cell-based gene therapy that was approved by the FDA on December 8, 2023, for treatment of patients 12 years of age and older with SCD and a history of vaso-occlusive events. It was approved alongside exagamglogene autotemcel (Casgevy; Vertex Pharmaceuticals Inc), which adds modified genes to the body using CRISPR/Cas9, a genome editing technology. Both represent the first cell-based gene therapies for treatment of SCD.6
Lovotibeglogene autotemcel involves collecting a patient's blood stem cells and genetically modifying them to produce HbAT87Q, a gene-therapy-derived hemoglobin that functions similarly to hemoglobin A, the adult hemoglobin produced in individuals unaffected by SCD. HbAT87Q-containing red blood cells are less likely to sickle and obstruct blood flow. After the patient’s blood stem cells are collected, they are treated with high-dose chemotherapy, called myeloablative conditioning, to remove cells from the bone marrow so they can be replaced with the modified cells. The modified stem cells are then reintroduced through a one-time, single-dose infusion as part of a hematopoietic (blood) stem cell transplant. According to data from the clinical trial, the therapy was very successful, resulting in a complete resolution of symptoms within 6 to 18 months in 88% of the trial participants.6
Despite the promise of this treatment, the cost of lovotibeglogene autotemcel raises questions about its accessibility. Lovotibeglogene autotemcel is priced at approximately $3.1 million per treatment, which many patients may not be able to afford. This represents the persistent gap experienced by patients with severe, incurable disease; although novel treatments are emerging, cost remains a significant barrier.1
