Background Dupilumab has demonstrated promising efficacy and safety in patients with dystrophic epidermolysis bullosa (DEB). However, clinical data addressing its long‐term effectiveness and safety across diverse DEB subtypes remain limited. Objective To evaluate the long‐term effectiveness and safety of dupilumab in the treatment of various subtypes of DEB, especially severe DEB. Methods This retrospective study analyzed patients with DEB who received dupilumab therapy at Henan Provincial People’s Hospital between January 2021 and October 2023. Results Twelve patients with five subtypes of DEB (Intermediate DDEB, Severe RDEB, Intermediate RDEB, DDEB Pruriginosa, and RDEB Pruriginosa) were enrolled. Genetic analysis of COL7A1 was performed and identified 8 new mutations, including c. 7720₇721insG, c. 313₁834del, dsIVS15 + 1G > T, c. 6082G > A, c. 6191G > A, c. 7697G > A, c. 7087G > A, and c. 8662₈677del. Eosinophil count tests were normal in all patients, and serum total IgE was elevated in 7/12 patients. The mean baseline BEBS score (23. 86 ± 15. 77) declined progressively to 16. 35 ± 12. 50, 12. 34 ± 9. 91, and 10. 4 ± 9. 09 at the 16‐week, 24‐week, and 52‐week follow‐ups, respectively. The mean baseline NRS pruritus score of all patients was 7. 25 ± 0. 97, and it decreased to 3. 83 ± 1. 47 and 1. 82 ± 0. 89 at the 4‐week and 52‐week follow‐ups, respectively. The mean baseline DLQI score of all patients was 19. 12 ± 6. 21, and it decreased to 10. 36 ± 6. 19, 5. 82 ± 3. 37, and 5. 00 ± 3. 00 at the 16‐week, 24‐week, and 52‐week follow‐ups, respectively. BEBS, NRS pruritus, and DLQI baseline scores were statistically significant differences from those after 52 weeks of treatment (p < 0. 01). Of the 12 DEB patients, Patient #6 had a poor treatment effect and Patient #12 had transient conjunctivitis. Notably, five patients maintained sustained treatment efficacy without significant adverse events for over two years. Conclusion Dupilumab showed long‐term effectiveness and safety in real‐world practice in 11 Chinese patients with five subtypes of DEB (Intermediate DDEB, Severe RDEB, Intermediate RDEB, DDEB Pruriginosa, and RDEB Pruriginosa).
Wang et al. (Thu,) studied this question.