Epidermolysis Bullosa is a set of genetically inherited conditions affecting 1 in at least 17,000 of the population. A fault in a gene causes the skin to be extremely fragile. The layers of the skin do not adhere properly and painful widespread blisters occur very easily. Currently there is no effective treatment. However it is widely anticipated that gene therapy will eventually provide lasting and effective treatments for patients for patients suffering from EB.

People born with the mild forms of Junctional EB are faced with a disabling disorder that compromises their quality of life. This research aims at curing of wounds and erosions of the skin of people with Junctional EB using a genetic therapeutic approach which represents the unique possibility for a beneficial care. Correcting the gene abnormalities in EB skin is expected to lead to stronger skin and fewer blisters. The launch of the human gene therapy trial on Junctional EB follows the concept of successful drug development with limited risk for the treated patients.

This three year project aims to study the therapeutic effect of the transplantation of genetically modified epithelia onto patients with a mild form of Junctional EB, which is caused by genetic mutations in the laminin b 3 chain. The epithelia will be obtained after ex vivo transduction of primary keratinocyte cell cultures using a retroviral vector expressing the laminin b 3 chain. In the framework of a preclinical study the researchers aim to perfect a method on in vivo gene therapy. Therefore, the work comprises four phases:

"This research will prove "test-of-principle" on gene therapy for Junctional EB. Prof Meneguzzi has a remarkably excellent track record in the field of molecular based EB research, and has assembled an outstanding team of collaborators in France, Italy and the UK to assist him with all clinical based work."

"The proposed project is aimed at fulfilling the ultimate expectation of the EB community: developing gene therapy for EB. The importance of this project is very high. Successful completion of the research would make a final treatment strategy available for sufferers of Junctional EB, and the results then could be translated to other subtypes of EB as well."