There is hope for millions of people with sickle cell anemia worldwide as Necker Children’s Hospital in Paris develops the world’s first procedure to reverse sickle cell anemia.
Scientists were able to reverse a French teenager’s sickle cell disease by altering the genetic instructions in his bone marrow so it made healthy red blood cells.
So far, the therapy has worked for 15 months and the child is no longer on any medication.
Sickle cell disease causes normally round red blood cells, which carry oxygen around the body, to become shaped like a sickle.
These deformed cells can lock together to block the flow of blood around the body. This can cause intense pain, organ damage and can be fatal.
The teenager who received the treatment had so much internal damage he needed to have his spleen removed and his hips replaced.
Every month he had to go into hospital to have a blood transfusion to dilute his defective blood.
But when he was 13, doctors at the Necker Children’s Hospital in Paris did something unique.
Doctors removed his bone marrow; the part of the body that makes blood and then genetically altered it in a lab to compensate for the defect in his DNA that caused the disease.
They were able to do this using a viral agent to overwrite the genetic instructions with new ones. The corrected bone marrow was then put back into the patient.
The results in the New England Journal of Medicine showed that the teenager has been making normal blood since the procedure 15 months ago.
Philippe Leboulch, a professor of medicine at the University of Paris, confirms this: “So far the patient has no sign of the disease, no pain, no hospitalisation. He no longer requires a transfusion so we are quite pleased with that, BBC NEWS reports.
“But of course we need to perform the same therapy in many patients to feel confident that it is robust enough to propose it as a mainstream therapy.”
However, Prof Leboulch is nervous about using the word “cure” as this is just the first patient to come through clinical trials.
But the study does show the potential power of gene therapy to transform the lives of people with sickle cell.
“I think it’s very significant, essential they’ve given him his life back,” said Dr Deborah Gill from the gene medicine research group at the University of Oxford.
She added: “I’ve worked in gene therapy for a long time and we make small steps and know there’s years more work.
“But here you have someone who has received gene therapy and has complete clinical remission – that’s a huge step forward.”
However, the expensive procedure can only be carried out in cutting-edge hospitals and laboratories, while most sickle cell patients are in Africa.
The next big challenge will be to transform this pioneering science into something that really can help millions of people.