FDA approves gene-editing treatment for sickle cell disease

US Food and Drug Administration Friday approved a landmark gene editing treatment for sickle cell disease, a painful condition that affects approximately 100,000 people in the United States, predominantly people of color. The innovative therapy promises to repair the gene responsible for the disease.

The breakthrough provides a beacon of hope for Johnny Lubin, a 15-year-old from Connecticut who has been living with the disease’s debilitating effects. He inherited the sickle cell gene from both his parents and has experienced severe pain and health complications since childhood.

Red blood cells, which are normally doughnut-shaped, bend into inflexible sickle shapes, causing them to pile up inside the blood vessels and prevent the normal supply of oxygen to the body. Complications include bone deterioration, stroke and organ failure.

Doctors told Lubin he would not live past 40.

“I started to get a little bit scared. Like I actually wanted to live past 40,” he said.

For more than a decade, Lubin was in and out of the hospital. He said he wanted to count how many times he had been in each hospital room and at one point he realized he had been in every room on the floor.

Johnny’s parents, Fabienne and JR Lubin, were desperate for a solution when they learned of a groundbreaking clinical trial involving gene editing, a process that does not require a donor.

First, stem cells were removed from Lubin’s bone marrow and he received chemotherapy to help wipe out the abnormal cells.

Then, in a laboratory, editing technology called CRISPR was used to increase the amount of a protective form of hemoglobin, a protein that takes up oxygen from the lungs and delivers it throughout the body – the protective form normally decreases after birth. The cells were then infused back into Lubin’s bloodstream.

Dr. Monica Bhatia, who is Johnny’s doctor and chief of pediatric stem cell transplantation at NewYork-Presbyterian/Columbia University Irving Medical Center, said by editing the cell, you reprogram cells to produce fetal hemoglobin.

“It has been widely known that fetal hemoglobin is somewhat protective, and those who have higher levels of fetal hemoglobin tend to have less severe symptoms of sickle cell disease,” she said.

“You’re changing someone’s DNA. So obviously you want to make sure the corrections you make are the ones you want,” Bhatia said.

After five challenging weeks in the hospital and half a year away from school, Lubin has drastically improved his health and prospects for a longer life.

“I thought it was pretty cool that I have like new cells and I was honestly hoping, you know, I could get, you know, some super powers from it, you know, maybe become a superhero, you know, like genetically engineered. ” Lubin said.

The patients must be followed long-term before the experts call this a cure. Gene editing is expected to cost several million dollars per patient and may not be appropriate for everyone with sickle cell disease. Nor would it prevent the gene from being passed on to future generations.

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