Gene therapy delivers alternative sickle cell cure in US

21-year-old Sebastien Beauzile from Laurelton, Long Island, has become the first person in New York State to be cured of sickle cell anemia using the innovative Lyfgenia gene therapy.

This pioneering treatment, administered at Cohen Children’s Medical Center, offers a beacon of hope for countless individuals battling this debilitating disease, Forbes reports on Sunday.

Lifelong struggle

Sickle cell anemia is a genetic disorder characterized by misshapen red blood cells that can obstruct blood flow, leading to severe pain and potential organ damage.

Beauzile’s battle with this condition began at just four months old, with frequent hospitalizations due to intense pain crises.

According to New York Post, he described the agony as “10 out of 10,” with his back feeling “like somebody was either pulling on it or hanging on it,” and his chest feeling “like somebody is sitting on it.”

Gene therapy breakthrough

Lyfgenia, developed by Bluebird Bio, represents a significant advancement in gene therapy.

Approved by the U.S. Food and Drug Administration (FDA) in December 2023, Lyfgenia works by extracting the patient’s own blood stem cells, genetically modifying them using a virus to insert functional copies of the hemoglobin gene, and then reintroducing these modified cells into the patient’s bloodstream.

NY Post reports that Dr. Jeffrey Lipton, who is the director of pediatric hematology oncology and stem cell transplantation at Cohen Children’s Medical Center, hailed the therapy as a cure, stating, “Other drugs modify the disease, but this is a cure… I suspect this will replace bone marrow transplants in time.”

Treatment journey

Beauzile’s treatment process began in early 2024 and spanned nearly a year.

It included chemotherapy to prepare his body for the new cells.

Despite initial apprehensions, he embraced the opportunity, saying, “At first, it was a little nerve-wracking. But the doctors spoke to me about it, told me what the side effects.”

In late December 2024, the genetically modified cells were successfully re-infused.

By January 13, 2025, Beauzile reported feeling like a new person, stating, “When I got my cells, it feels like a second birthday.”

Life after treatment

Since the therapy, Beauzile has embraced activities previously hindered by his condition, such as working out and traveling.

He now aspires to return to school to pursue a medical career … aiming to support children facing similar health challenges. Expressing his gratitude, he remarked, “I’m not in pain anymore.”

New era in treatment

The FDA’s approval of Lyfgenia in December 2023 marked a significant milestone in the treatment of sickle cell disease.

This gene therapy offers a one-time, single-dose infusion as part of a hematopoietic (blood) stem cell transplant, providing a potential cure for patients aged twelve years and older with a history of vaso-occlusive events.

Dr. Banu Aygun at Cohen Children’s Medical Center, emphasized the transformative potential of Lyfgenia, stating, “When gene therapy became available when it … so that he can dramatically change his … .”

Looking ahead

Beauzile’s successful treatment not only transforms his life but also offers hope to countless others battling sickle cell anemia.

As gene therapies like Lyfgenia become more accessible, they hold the promise of revolutionizing the treatment landscape for genetic disorders, providing cures where only symptom management existed before.

This groundbreaking case, according to multiple media reactions, underscored the potential of gene therapy to change lives and paves the way for broader applications in the future.

Three months without crisis

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.

According to Forbes, 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.

Previously, people with sickle cell anemia have been mostly treated with therapies which can control, but not cure the disease.

Some people have been cured by giving them bone marrow transplants from external donors, normally a close relative without sickle cell anemia, but the procedure does not always work, comes with a host of side effects and a risk of dying.

Bone marrow transplantation (BMT), also known as hematopoietic stem cell transplantation (HSCT), is currently the only potential cure for sickle cell anemia.

According to the National Institutes of Health, about 1 in 20 children under 16 receiving bone marrow transplants for sickle cell anemia have died, and 1 in 10 of people 16 years or older.

“Sickle cell is a debilitating, often-overlooked disease. But treatments like Lyfgenia are changing that,” said Jeffrey Lipton.

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.

Lyfgenia gene therapy cost

“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.

“Despite the success of Lyfgenia on Mr Beauzile and other patients who have already benefitted, the therapy is incredibly costly.

“Lyfgenia is priced at $3.1 million per treatment, whereas Casgevy costs $2.2 million raising questions as to how many patients with sickle cell disease will be able to access the therapy,” Forbes reported.