Science

Boy with rare disease gets new skin with gene therapy

Boy with rare disease gets new skin with gene therapy”

"While only a case report, the seven-year-old boy was in a life-threatening condition and this intervention can be credited to saving his life". "Within five weeks, the cells had covered about 80 percent of the boy's body", explained De Luca. But his body rejected this.

The boy's parents asked about experimental treatments, and De Luca and his colleagues were contacted.

The researchers took skin cells from a non-blistering area of the boy's body, and used them to establish protein cultures that were genetically modified to be free of the mutation responsible for the boy's condition - in this case, a variant of a gene called LAMB3. In January 2016 the boy, whose name is not being released to protect his privacy, received a few more skin patches-and in February he was released from the University Hospitals of the Ruhr University Bochum in Germany.

After almost two years, the new skin appears completely normal. The results of the work were published in the journal Nature. A team of led by scientists at Ruhr University and the University of Modena in Italy chose to try a radically experimental treatment as a last-ditch effort to save the patient. Each month, human skin is entirely replaced with new cells, but whether this renewal is the result of a large population of equally potent progenitor cells or of a smaller number of individual stem cells that dominate regeneration has been hotly debated.

"Before this discovery, it was thought that the skin only had one type of stem cells", he said.

Other researchers in the field say they are impressed with the team's results.

A team of Italian researchers came to his aid by combining stem-cell techniques with gene therapy. "This is a handsome example of how you can move stem cells into the clinic in a very safe and powerful manner", he says, also calling the work "a powerful demonstration that only a few stem cells are indeed maintaining the skin epidermis rather than many different progenitors".

Some unusual pigmentation remains on the boy's skin because of the earlier damage.

"It's an accumulation of work done by a huge team, a really multidisciplinary team that had combined over a decade's worth of research into skin grafts and other treatments for EB".

His skin no longer blisters or itches, and unlike many burn patients who must apply ointment once or twice a day for the rest of their lives, his repaired skin needs no ongoing treatment. Bruises heal as in a normal kid, in 12 to 14 days. The protein is crucial for, among other things, sticking the epidermis to the underlying dermis. It did not affect the deeper dermis, where cuts trigger scars. Not every mutation can be corrected in the same way as the one in the report.

In a major medical breakthrough, on Wednesday Italian researchers announced that they were able to nearly entirely reconstruct the skin of a seven-year-old boy afflicted with JED-and they used gene therapy to do it.

In the future, if the treatment is shown to be safe in the long term, scientists believe the approach could be used to treat less severe skin disorders. Specifically, the study has clarified the way skin cells regenerate, which has been a subject of intense discussion among skin biologists.

Clinical trials are underway. The complicated treatment will not be cheap.

"I'd say that this epidermis will stay basically forever", De Luca said.

The now 9-year-old's customized stem cells are indeed stored in the lab, ready in case he needs a patch someday. Then Hirsch applied the grafts provided by De Luca.

It's an awesome and uplifting turnaround for a child whose short life may have ended without this kind of remarkable intervention - although the team acknowledges such extensive treatments wouldn't usually be necessary, even if they are now scientifically possible. Prevention, De Luca says, is better than restoration. We got the feeling that the body of the kid was recovering, was responding. In a younger child who is less critically ill, still-healthy epidermis can be removed much more slowly and replaced in pieces over the course of a year or two, he says.

The presence of hundreds of genotypes in each biopsy was also a good sign that a variety of cells were present in the boy's transgenic skin and that no particular genotype dominated (a sign of a potentially cancerous growth advantage). "This is going to be discovered only after a phase one clinical trial". De Luca says he will follow the boy's progress indefinitely to make sure he continues to thrive.

Michele de Luca has worked in epithelial stem cell biology for 20 years. "It will", he says, "take more time beyond my working life span".



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