OBJECTIVES: DEB is a rare, inherited, progressive dermatological condition that results in the formation of extensive skin blisters and wounds. Until recently, DEB management primarily focused on symptomatic relief, including wound care. This study investigates the direct cost drivers currently associated with DEB and explores potential future DMTs.

METHODS: An SLR was conducted March 28, 2023 in Embase to identify the economic burden associated with DEB. Eligible studies were published from 2008 (2020 for conference proceedings) and presented data on healthcare resource utilization or direct/indirect costs. Citations were assessed by two reviewers, with discrepancies reconciled by a third. In this sub-analysis, data on direct costs were extracted. A ClinicalTrials.gov search was conducted on January 5, 2024 to identify potential future DMTs. Trials of interest were Phase 2 or 3 with a status of completed, active not recruiting, or recruiting.

RESULTS: 63 citations were screened, with 13 studies included overall; 6 reported direct costs (EU:3, US:3). Direct medical costs for DEB were higher in the US ($32,352) vs. Europe (€8,357). Direct costs for DEB in Europe were highest in Germany (€12,576) and lowest in France (€5,658). In one European study, hospitalizations corresponded to 39% (€3,228), outpatient visits to 32% (€2,651), and medication to 13% (€1,104) of direct medical costs. Nine clinical trials research 7 potential DMTs: advanced/gene therapies (EB-101, B-VEC, ALLO-ASC-SHEET, FCX-007), protein-replacement therapies (PTR-01, PTR-01-002), and a proteinase inhibitor (Polyphenon E). In May 2023, the topical gene therapy B-VEC was approved by the FDA, and a Phase 3 study for the autologous gene-corrected cell therapy EB-101 is estimated to be completed December 2024.

CONCLUSIONS: Previously, as there were no DMT options for patients with DEB treatment was symptomatic only. Future innovative DMTs should aim to prevent skin wounds, thereby decreasing the need for hospitalization and outpatient visits.