A new groundbreaking medical procedure by a team of researchers at Necker Children’s Hospital in France promises hope for sickle cell disease patients.
Using pioneering treatment, scientists at Necker Children’s Hospital in Paris have succeeded in reversing the disease in a French teenager, reports BBC.
According to the doctors, they were successfully able to alter the genetic instructions in the bone marrow of the teenager to get it to produce healthy red blood cells.
Doctors removed his bone marrow, which manufactures blood. They then genetically altered it in a lab to compensate for the defect in his DNA that caused the disease.
The teenager — now 15 — underwent the procedure at the hospital in 2014, and scientists say the results so far have been very encouraging with about half of his red blood cells having normal haemoglobin.
Results published by the researchers in the New England Journal of Medicine show the teenager has been making normal blood in the months following the procedure.
Professor Philippe Leboulch, one of the lead scientists on the groundbreaking medical procedure, said that while it is too early to call the procedure a cure for sickle cell disease, it does provide a necessary respite for the teenager.
“So far the patient has no sign of the disease, no pain, no hospitalization. He no longer requires a transfusion so we are quite pleased with that.
“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.”
Before the treatment, the teen had to visit the hospital every month to have a transfusion to dilute his defective blood. He also suffered significant internal damage that caused his spleen to be removed and his hips to be replaced.
Dr. Deborah Gill, gene researcher at the University of Oxford, believes the results are “a huge step forward” and opens new frontiers in treatment for sickle cell sufferers.
“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,” Dr. Gill said.
Another reported setback is the fact that the expensive procedure can only be carried out in cutting-edge hospitals and laboratories — far away from the countries in sub-Saharan Africa where the majority of sickle cell sufferers live — with Keith Wailoo adding in the New England Journal of Medicine that “vexing questions of race and stigma have shadowed the history” of the medical treatment of the disease.
Sickle cell disease mainly affects people with African, Caribbean, or Middle Eastern ancestry. In the United States, mostly African Americans are affected, and worldwide, about 275,000 babies are born with it each year.
Illustration showing the difference between normal and sickled red blood cell formations. Photo credit: General Health
In sickle cell sufferers, normally round red blood cells, which carry oxygen around the body, are defective and shaped like a “sickle.” Those cells can sometimes lock together, clogging tiny blood vessels and causing bouts of extreme pain, organ damage, and even death.
