Molecular therapies for epidermolysis bullosa

Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of disorders manifesting with blisters and erosions of skin and mucous membranes in response to minor mechanical trauma. More than 1500 mutations in 17 different genes underlie more than 30 different EB subtypes. To date, the treatment is symptomatic aiming mainly to support wound healing and solve complications, and patients with severe subtypes, with chronic, life-long skin fragility have high, unmet medical needs. During the last years, many experimental therapeutic studies for EB have been initiated in cell culture systems, animal models or pilot clinical trials, making use of gene correction, RNA reprogramming, protein replacement or therapeutic stem cells. Although gene therapy was the first to be applied in patients, the focus now moved towards protein and cell-based therapies. However, the approach is extremely complex; not only in technical terms, but also in the way the chronic disease, its progression and its complications can be amended in the long term. Therapeutic efficacy, as well as unexpected outcomes must be carefully monitored.