Transgenic Epidermal Cultures for Junctional Epidermolysis Bullosa — 5-Year Outcomes

Maximilian Kueckelhaus, M.D., Tobias Rothoeft, M.D., Laura De Rosa, Ph.D., Burcu Yeni, B.Sc., Tobias Ohmann, Ph.D., Christoph Maier, M.D., Lynn Eitner, M.D., Dieter Metze, M.D., Lorena Losi, M.D., Ph.D., Alessia Secone Seconetti, Ph.D., Michele De Luca, M.D., and Tobias Hirsch, M.D.

SUMMARY

Inherited junctional epidermolysis bullosa is a severe genetic skin disease that leads to epidermal loss caused by structural and mechanical fragility of the integuments. There is no established cure for junctional epidermolysis bullosa. We previously reported that genetically corrected autologous epidermal cultures regenerated almost an entire, fully functional epidermis on a child who had a devastating form of junctional epidermolysis bullosa. We now report long-term clinical outcomes in this patient. (Funded by POR FESR 2014–2020 — Regione Emilia-Romagna and others.)

N Engl J Med 2021; 385:2264-2270
DOI: 10.1056/NEJMoa2108544