A world-first procedure, performed at Necker Children’s Hospital, Paris, will offer hope to millions of people suffering with sickle cell blood disorder. Scientists were able to change the genetic instructions in the patient’s bone marrow so that it could produce healthy red blood cells. At this stage, the therapy has been working for 15 months and the child who was operated on is no longer in need of any medication.
Sickle cell disease is a lifelong condition caused as a result of a faulty gene that affects the manner in which red blood cells develop. Shaped like a sickle, these deformed cells can lock together, blocking blood flow around the body and causing intense pain, as well as organ damage that can be potentially fatal.The patient who received the treatment suffered internal damage to such an extent that his spleen had to be removed and his hips were replaced. In addition, each month he had to have a blood transfusion in hospital in an effort to dilute his defective blood. However, at just 13 years of age his doctors offered him something unique.
They removed his bone marrow and then genetically altered it in a lab so that it would compensate for the defect in his DNA that had caused the disease. The team used a virus to infect the bone marrow with new, correct instructions, which was then put back into the patient. The results, published in the ‘New England Journal of Medicine’ indicate that the teenager has been able to produce normal blood since the procedure was performed. Philippe Leboulch, a professor of medicine at the University of Paris, told the BBC: “So far the patient has no sign of the disease, no pain, no hospitalization.”They are excited by the positive results so far, but Prof Leboulch hesitates to use the word “cure,” as this is only the first patient to have come through their clinical trial. Although the study shows the potential power of gene therapy in transforming the lives of people with sickle cell, the expensive procedure is currently available only in cutting-edge hospitals and laboratories, while the majority of sickle cell patients are found in Africa. The next step will be making this pioneering science available to help millions of people.