Gene-Editing Treatment Given To Trumbull Boy Approved By FDA

TRUMBULL, CT — A Trumball boy was one of the first patients to receive potentially life-saving gene-editing treatment for people with sickle cell disease — a treatment which, as of Friday, is FDA-approved, according to reports and the U.S. Food and Drug Administration.

Johnny Lubin, 13, was given the Vertex Pharmaceuticals and Crispr Therapeutics-made treatment exa-cel. With the brand name Casgevy, the treatment is the first FDA-approved therapy utilizing CRISPR, a type of genome-editing technology in which a patient's blood stem cells are modified to repair DNA mutations and then given back as a one-time, single-dose infusion, according to the FDA.

Lubin, now 15 years old, shared in an interview with CNN that he was given the treatment when he was 13.

Before that, Lubin explained, it was difficult for him to focus on fun and being a kid as he was always worried that a 'pain crisis' was just around the corner. Those episodes would sometimes last for days, according to Lubin.

"It would mostly be in my back, like my lower back — like a pounding pain. So it hurt a lot," Lubin said.

Until the new treatments, the only hope for people with sickle cell disease was a bone marrow transplant, Lubin and his family explained. But for most patients, finding a donor is nearly impossible.

Faced with the fear of losing their son, the Lubin family enrolled him in a clinical trial.

"I'm like 'Wow, that's pretty cool,'" Lubin said. He added, with a laugh: "And freaky ... I feel like a guinea pig."

The trial seems to have been successful, with 29 out of the 30 patients enrolled achieving the goal of not having a pain crisis for at least a year, CNN reported. As for Lubin, it's been more than two years without the pain he had come to know so well.

Sickle cell disease is a group of inherited blood disorders affecting approximately 100,000 people in the United States, mostly people who are African American or Hispanic American, the FDA said.

The primary problem in sickle cell disease is a mutation in hemoglobin, a protein found in red blood cells that delivers oxygen to the body’s tissues, according to the FDA. This mutation causes red blood cells to develop a crescent or "sickle" shape, which restricts the flow in blood vessels and limits oxygen delivery to the body’s tissues, leading to severe pain, organ damage, and possibly disability and early death.

Patients who use Casgevy, as well as a second newly-approved gene editing sickle cell disease treatment Lyfgenia, will be followed in a long-term study to evaluate each product’s safety and effectiveness, the FDA said.