Advances in EB treatment and research at the EB House Austria
New scientific publication with EB House contribution
The many different EB types are caused by mutations in 20 known EB genes. Despite tremendous progress in the development of therapeutic approaches for EB patients, there is no curative therapy so far, and not every therapy is applicable to every EB type. EB House scientists summarized in a review article in the journal "Experimental Dermatology" all therapeutic approaches for EB patients under investigation at the EB House and the recent advancement of gene therapy development for EB.
Currently, a drug therapy for the palliative treatment of aggressive skin cancer is examined in adult EB patients. This involves injection of the antibody Nivolumab, whose efficacy has been demonstrated in other skin cancers. Nivolumab is supposed to activate the body's immune system to fight the existing tumor cells.
Another study investigates the effect of the vitamin D ointment on wound healing and immune defense against microorganisms in the wounds of DEB patients. Application of this ointment showed positive results in an initial observational study. Here the aim is to demonstrate the efficacy of topical vitamin D therapy on improved wound healing compared to placebo.
Recently, the EB House researchers have successfully tested a diacerein cream containing the active component of the rhubarb root on 17 EBS patients. The diacerein cream showed a reduction in blisters compared to the placebo cream and had no side effects.
The ex vivo gene replacement therapy promises a permanent closure of wounds by transplanting a skin made of patient’s own stem cells in which an intact gene is introduced via a virus. This therapy has so far been successfully applied with no adverse effects to 3 JEB patients with mutations in the laminin gene, and is currently being prepared for RDEB and JEB patients with mutations in the collagen 7 and collagen 17 gene, respectively.
Moreover, the EB House team develops the virus-free ex vivo gene therapy method CRISPR, which cut out the defective gene segment to replace it with a healthy copy in order to permanently repair the gene in the skin cells. Other approaches, such as trans-splicing or exon skipping, use repair molecules that only transiently correct the skin cells and therefore need repeated application. Currently, the researchers are investigating efficient and pain reduced methods for the delivery of such repair molecules into the skin.
The review article additionally lists all current worldwide strategies of EB treatment.
To access the full article please click here.