At the DEBRA International Congress, Prof. Peter Marinkovich updated us on the results of a phase 1 gene therapy trial for EB. His research group in Stanford California are using viruses to introduce into skin collagen 7, which acts as a skin glue and is missing or reduced in people with a severe form of EB.

How are they doing it?

  1. They take a skin biopsy from the patient,
  2. use viruses to carry the collagen 7 gene into cells from the biopsy
  3. grow the cells into sheets of skin
  4. and then graft them back to wounded areas of the patients.

In the initial phases of the trial they only included adults but now, as they get more confident about safety, they are including children of 13 years and older and hope to progress to younger children in time. They have been careful to choose patients who produce a small amount of collagen 7 so that their body wouldn’t reject the collagen 7 being introduced as a therapy.

In deciding which areas of the body to graft, the researchers aim to choose areas that are important to the patient. In the immediate aftermath of the graft, not moving too much, preventing infection and optimising nutrition are very important to improve the possibility of success. Sometimes the grafting is not successful but, in general, the results are positive. The production of collagen 7 can be observed in the grafted areas, even up to 2 years after grafting.

Six patients have now been included in the trial. The research group are now looking to a phase 2 trial and are partnering with a company, Abeona, who have experience in this area. They estimate that they will need to treat at least 12 more patients before they can hope for official approval as a therapy for EB.

A huge thank you to Peter and all his team for their work and to DEBRA Croatia for organising a wonderful conference.

Avril Kennan