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In world-first breakthrough, French doctors use gene therapy to treat rare blood disease

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Doctor for tropical medicine Florian Steiner demonstrates the testing of a blood sample at the Charite Hospital in Berlin on August 11, 2014. Reuters/Thomas Peter

For the first time, gene therapy has been used to treat a boy with sickle cell disease in Paris. The medical treatment was developed and administered by a research team from Paris’s public hospital system, Assistance Publique-Hôpitaux de Paris (AP-HP).


APHP researchers have relieved the symptoms of a 15-year-old boy with sickle cell disease, or SCD.

The boy is the first in the world to be treated for SCD in a clinical trial with gene therapy. Nearly five million people have SCD worldwide.

What is SCD?

The disease is inherited and caused by a gene mutation that causes red blood cells to lose their usual donut-like appearance, and take on a sickle or crescent moon shape.

These mutations make it more difficult for red blood cells to move throughout the body, which means they often get stuck in arteries. They are also more likely to clump together.

These symptoms can be painful, and people with the disorder are usually given blood transfusions to clear the blockages. They can also receive bone marrow transplants. However this option is more expensive, and only 10 percent of people with the condition match with qualified donors.

Gene therapy explained

The hospital team had collected bone marrow stem cells, which give rise to red blood cells, from the boy when he was 13 years old.

The stem cells were then treated with a therapeutic gene that recoded their DNA to correct blood cell production.

The treated cells were then re-injected into the boy’s body.

The gene therapy appears to have stopped the painful symptoms of SCD. Thursday’s results report on the boy’s health 15 months after treatment.

“He is well, he no longer needs monthly (blood) transfusions, anti-pain medication, or hospitalisation,” study leader Marina Cavazzana explained to AFP.

The results were published in the New England Journal of Medicine.

While the initial signs of gene therapy to treat SCD are promising, more research needs to be done and verified by other peer-reviewed journals.

(with AFP)