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French Team Scores World’s First Sickle Cell Anemia Patient ‘Cured’ by Gene Therapy

March 6, 2017        

By Mendy Hecht, Hamaspik Gazette

If a new report in The New England Journal of Medicine is true, then doctors in Paris have made medical history by producing the world’s first-known complete cure of sickle cell anemia.

Sickle cell anemia, which primarily affects children of African ethnicity, is marked by misshapen red blood cells piling up in and clogging the body’s organs and small blood vessels.

The common disorder, caused by a genetic mutation that produces red blood cells not in their normal round shape, results in high pain, anemia, organ lesions and shortened life expectancy.

Approximately 100,000 U.S. residents, mostly of African heritage, currently have the condition, and about one in every 365 black children in the U.S. is born with sickle cell disease.

According to the March 2 report, researchers at Necker Children’s Hospital in Paris cured a teenager of sickle cell anemia by reprogramming the faulty genes behind the disease so that they would produce normal-shaped red blood cells.

To do so, they first harvested his stem cells from his bone marrow.  In a genetics lab, they then corrected the genetic defect that caused the stem cells to produce misshapen red blood cells.

Doctors then treated him with chemotherapy for four days to eradicate his diseased stem cells.  The last step replaced his missing stem cells by reintroducing the genetically modified stem cells, a step done by simple intravenous (IV) injection into the patient’s bloodstream.

According to the report, it’s been 15 months since the young patient concluded the experimental treatment—and his blood cells show no further sign of the disease.  He’s also off medication.

“All the biological tests we perform lead us to think he is cured,” said Dr. Marina Cavazzana, senior author of the study and head of the biotherapy department at Necker.

“Since therapy was applied, he hasn’t had any pain, any complications.  He is free of any transfusions.  He plays sports and goes to school,” said Dr. Philippe Leboulch, an author of the new research and a professor of medicine at the University of Paris.

“We want to be cautious, of course, and we don’t want to say that this is the cure for tomorrow or the next day for everybody,” he added.  “At the same time, what we’ve observed is really convincing, and we just hope that we can move this along to make it available to patients.”

“Gene therapy holds promise because a patient serves as his own donor,” explained American Society of Hematology president-elect Dr. Alexis Thompson.

But is the patient truly cured?

The answer to that “can be provided only by the longer follow-up,” Dr. Cavazzana pointed out—adding hopes that the new treatment will be widely available within the next five years.

The only current long-term treatment for sickle-cell anemia is a bone marrow stem-cell transplant—a procedure only available to patients with a sibling (or, less commonly, a stranger donor) whose bone marrow is compatible enough for transplant.