Exciting results in successful gene therapy trial
DebRA has some great news to share with all our members concerning a recent breakthrough in EB research.
For the first time ever, researchers have successfully used gene therapy to correct patches of damaged skin in an EB patient.
The work, carried out on one patient with Junctional EB, took place in Italy and involved removing areas of skin from the patient’s palms and correcting the genetic defect.
The corrected skin cells were then grown into sheets of skin in the laboratory, until they were of a size suitable for forming skin grafts. Patches of skin were then grafted onto the patient’s legs.
The patient’s skin in these grafted areas had completely healed after one week and, a year later, these corrected areas of skin look normal and remain strong: they do not blister or itch even after being rubbed hard, although surrounding areas of uncorrected skin still blister even without any friction applied.
This is the first proof-of-principle that a gene therapy might provide a solution to this otherwise incurable condition, and it should give hope to every family affected by EB that real progress is being made in the battle to find effective treatments.
We must still be cautious though. There is a very long way to go before any possible treatment will be widely available.
So far this technique has been successful on just one patient with one particular type of EB. The plan now is to extend the trial. The Italian team of researchers, led by Professor Michele de Luca at the University of Modena, will continue to work with the same patient, grafting additional areas of the body and monitoring the results. DebRA organisations from several countries are collaborating to recruit a further five or six patients who might be suitable to be treated in the same way.
Despite the word of caution this is still very exciting news to everyone involved with DebRA.
John Dart, DebRA Director, said: “This is one instance when the word breakthrough is not an exaggeration.
“This is proof of principle that gene therapy can work in the treatment of EB and it really does give hope to many families in the UK and across the world.
“This is validation of the approach that we have been taking and it is very exciting for us and the researchers that we work with.
“This work by Prof. De Luca gives real hope that effective treatments are at last on their way.”
