A French teenager's sickle
cell disease has been reversed using a pioneering treatment to change his DNA.
The world-first procedure at
Necker Children's Hospital in Paris offers hope to millions of people with the
blood disorder.
Scientists altered 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.
'No sign of disease'
Doctors removed his bone
marrow - the part of the body that makes blood. They then genetically altered
it in a lab to compensate for the defect in his DNA that caused the disease.
Sickle cell is caused by a
typo in the instructions for making the protein haemoglobin, which is densely
packed into red blood cells.
A virus was used to infect
the bone marrow with new, correct instructions.
The corrected bone marrow was
then put back into the patient.
The results in the New
England Journal of Medicine showed the teenager has been making normal blood
since the procedure 15 months ago.
Philippe Leboulch, a
professor of medicine at the University of Paris, told the BBC News website:
"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.
"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."
