La place de la thérapie génique dans la prise en charge de l’épidermolyse bulleuse : avancées et perspectives

Details

Supervisors

Demoulin, Jean-Baptiste

Faculty

Faculté de pharmacie et des sciences biomédicales

Degree label

Master [120] en sciences pharmaceutiques, à finalité spécialisée

Abstract

enEpidermolysis bullosa (EB) is a group of rare genetic diseases characterized by extreme skin fragility resulting from mutations affecting dermo-epidermal adhesion proteins. In the absence of a curative treatment, disease management has long relied on symptomatic approaches, which are associated with high morbidity and a major impairment of quality of life. Recent advances in gene therapy have profoundly changed this paradigm by introducing causal strategies that directly target the molecular origin of the disease. This paper critically analyzes the main therapeutic approaches developed for EB, including ex vivo gene therapy based on the genetic correction of autologous keratinocytes, in vivo gene therapy relying on the direct administration of viral vectors, and emerging genome editing technologies. Available preclinical and clinical data demonstrate significant improvements in wound healing and sustained skin regeneration in selected contexts. Consequently, EB appears to be a privileged model for the development of cutaneous gene therapy, while also highlighting persistent challenges related to safety, long-term durability, cost, and accessibility.