News published on 2 March 2017, in New England Journal of Medicine states that remission of the signs of sickle cell disease of the first patient in the world was recorded after being treated with gene therapy. The treatment was undertaken for a French teenager with sickle cell disease which is a group of inherited blood disorders with abnormal hemoglobin in red blood cells that causes blood to clog in tiny vessels and organs.
The team from Necker Children’s Hospital, AP-HP and Imagine Institute (AP-HP/Inserm/Université Paris Descartes) led by Marina Cavazzana conducted the gene therapy from October 2014 with a phase I clinical trial/II in the 13 year old patient with severe sickle cell disease. This disease affects known segments in the world – Africa, Middle East, Caribbean and among Asian origin people. Worldwide 275,000 babies are born with it every year. In India tribal populations are largely afflicted with the disease.
The results of this life-long disease remain complex and varied. Patients suffer from bouts of severe anemia due to the inefficient transport of oxygen. They are also at higher risk of contracting major infections and can suffer from occasional, extremely painful spasms known as sickle cell crises. Stunted growth and strokes are also symptoms in some cases.
Conventional medicine does not cure sickle cell disease. Till date the only way to attempt to cure it has been to use bone marrow or stem cell transplants from a healthy donor to allow the patient’s body to produce healthy blood cells. Although this works but risks of dangerous immune response (transplanted cells begin attacking patient’s normal cells) is too high.
Now we see this case of a teenager in the Paris hospital since 2014 who underwent the unique new therapy. A specific gene that induces “anti-sickling” effect on red blood cells was inserted into the patient’s own stem cells using a modified virus. The cells were then allowed to transform into red blood cells and they began to proliferate in the patient’s body. Fifteen months later the boy, now 15, is not suffering from any of the effects of sickle cell disease.
It appears that at least 50 percent of his blood cells have normal hemoglobin and are normally shaped. Although this isn’t a cure for the disease, the treatment has proven effective as the symptoms have been quashed and he is off all other forms of medication and treatment. “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. “So we are quite pleased with the results.”
The gene therapy was invented by scientists at Bluebird Bio based out of Cambridge, Massachusetts. They’ve treated six other patients with sickle cell disease in the same way, and although the results have yet to be published, it appears that it has not worked as successfully in all of them just yet. However, trials are still taking place, and the future is looking increasingly bright for those with this unfortunate condition.
And now there is hope for patients!