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20.08.2014

Junctional EB gene therapy approach, given new life in Salzburg

In a study following on from the first EB gene therapy clinical trial, undertaken in a single patient in Italy in 2006, another JEB patient was recently treated with a so-called ex-vivo gene therapy.

The approach is scientifically similar to the Stanford approach and is the result of a long-term collaboration between the EB House in Salzburg, Austria and the Centre of Regenerative Medicine in Modena, Italy.

The teams are led by Prof. Johann Bauer in Salzburg and Prof. Michele De Luca in Modena. The following outlines the sequence of events in this trial, as they unfolded over the last few months:

May, Salzburg

A skin biopsy was taken from the patient and sent to Modena.

May – June, Modena:

Epidermal stem cells were isolated and the genetic fault was corrected in the lab (using retroviruses). The corrected stem cells were then expanded and grown into skin sheets (transplants). The skin sheets measured 5x7 cm each and were attached to special membranes, so that they wouldn't tear.

July, Salzburg

July 2nd: Five skin sheets were delivered from Modena to Salzburg in a cold box. In a 2-hour operation, the transplants were grafted onto particularly damaged areas of skin (severe wounds) on the patient's thighs.

July, 11th: the dressings were removed for the first time, and the healing process appeared to be progressing well. At this point, 2 out of the 5 transplants had already taken well.

Present status

In a follow-up exam on 18th of August, 3 out of 5 of the transplants had grown well. The other 2 have not been rejected either but take longer to engraft. Wound healing was progressing nicely and the junction between 'old' and 'new' skin hardly visible. The patient is well and she will have check-ups at regular intervals in the first year after the transplantation, at 3, 6 and 12 months.

Future plans

The research teams are currently developing and optimising the technology for other subtypes of EB (with collagen 7 and collagen 17 deficiency) as well as trying to obtain regulatory approval to move on to clinical trials for these.

Barbara Dissauer, DEBRA Austria and DEBRA International

Table in a surgery setting, with 5 skin sheets in plastic boxes

Skin sheets, each measuring 5x7 cm

Prof. Dr. Johann Bauer (Salzburg) and Prof. Dr. Graziella Pellegrini (Modena), discussing images

Prof. Dr. Johann Bauer (Salzburg) and Prof. Dr. Graziella Pellegrini (Modena)