title: Molecular therapies for inherited epidermolysis bullosa.
abstract: Inherited epidermolysis bullosa (EB) comprises rare genetic disorders characterized by formation of blisters and erosions of skin and mucous membranes after minor mechanical trauma. The molecular basis and the pathomechanisms of the main EB types have been largely deciphered in the past decades. The burden of the disease is high and quality of life strongly affected. The treatment is still symptomatic aiming to support wound healing and resolve complications. Numerous experimental therapeutic approaches for EB have been explored in the last years, most of them dedicated to dystrophic EB. Although gene and cell therapies have been already applied in patients, molecular therapies including gene editing and repurposing of small molecules are currently very attractive. Recent data on the effect of small molecules, like aminoglycosides and angiotensin receptor blockers in preclinical models for dystrophic EB are encouraging. The efficacy in patients remains to be proven in clinical trials. Therapeutic efficacy, as well as unexpected outcomes must be carefully monitored.
authors.affiliation: Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany - cristina.has@uniklinik-freiburg.de.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
mesh_terms: D000818:Animals; D064987:Cell- and Tissue-Based Therapy / Q000379:methods; D017281:Cost of Illness; D058492:Drug Repositioning; D004820:Epidermolysis Bullosa / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics / Q000503:physiopathology / Q000628:therapy*; D000072669:Gene Editing / Q000379:methods; D015316:Genetic Therapy / Q000379:methods; D006801:Humans; D058990:Molecular Targeted Therapy; D011788:Quality of Life; D014945:Wound Healing