From Supportive Care to Precision Medicine: Emerging Therapies for Inherited Epidermolysis Bullosa

Abstract

Background: Inherited epidermolysis bullosa (EB) comprises monogenic disorders characterised by tissue fragility, recurrent blistering, chronic wounds and multisystem complications. Although multidisciplinary supportive care remains fundamental, it cannot correct the molecular defect or prevent cumulative tissue damage. This narrative review examines emerging disease-modifying therapies for inherited EB, emphasising their application in clinical practice. Methods: Pub-Med/MEDLINE was searched using terms relating to EB subtypes and pharmacological, gene-, RNA-, protein-, cell- and genome-editing therapies. Reference lists, clinical guidelines, consensus statements and regulatory documents were also examined. Clinical studies and preclinical investi-gations were synthesised qualitatively; no meta-analysis was performed. Results: Recent advances have expanded treatment beyond conventional wound care. Oleogel-S10 enhances endogenous wound healing independently of genotype, whereas beremagene geperpavec delivers functional COL7A1 copies directly to dystrophic EB wounds. Prademagene zamikeracel combines ex vivo correction of autologous keratinocytes with epidermal grafting, offering potentially sustained clo-sure of selected chronic wounds. Nevertheless, these treatments remain predominantly local and do not fully address generalised skin fragility or extracutaneous disease. Mesenchymal stromal cells, haematopoietic stem cell transplantation, recombinant type VII collagen, RNA-based treatments and genome editing may provide broader or more durable benefits, but evidence remains limited and concerns regarding delivery, safety, durability and accessibility persist. Conclusion: Precision and regenerative therapies are transforming EB management but remain complementary to multi-disciplinary supportive care. Clinical evaluation should extend beyond wound closure to include pain, function, growth, quality of life and caregiver burden. Long-term surveillance and personal-ised combination strategies are essential to determine whether early treatment can safely alter the natural history of EB.