Table 2.

Molecular and Pharmacological Approaches for the Treatment of EB^*

Approach	Strategies	Current Status+
Cell-based therapies	• Injection of allogeneic fibroblasts • Systemic or perilesional administration of mesenchymal stem cells • Autologous application of revertant mosaic cells • Use of cord blood stem cells	CT CT CT PC
Bone marrow transplantation	• BMT following complete myeloablation • Non-myeloablative conditioning • Autologous induced pluripotent stem cells	CT CT PC
Gene therapy/mRNA editing	• Ex vivo keratinocyte therapy • CRISPR/cas editing • RNA trans-splicing • PTC read-through and NMD antagonists	CT PC PC PC
Protein replacement therapy	• Delivery of recombinant type VII collagen in RDEB	PC
Novel and repurposed drug treatments	• Anti-itch medications • Anti-fibrotic molecules (Losartan and Ruxolitinib) • Anti-inflammatory therapies • Enhanced wound healing (cathelicidin, Zorblisa, Keragel™)	PS PC PS PS

^*CT, clinical trials initiated, ongoing or recently completed; PC, these approaches are tested in preclinical studies, often utilizing appropriate mouse models of EB; PS, testing of these drugs is at the planning stages; BMT, bone marrow transplantation; PTC, premature termination codon; NMD, nonsense-mediated mRNA decay.

⁺For details on ongoing clinical trials; see Supplemental Figure S1.