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Review Article

Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa

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Article: 2350232 | Received 17 Mar 2024, Accepted 24 Apr 2024, Published online: 09 May 2024

References

  • Guide SV, Gonzalez ME, Bağcı IS, et al. Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa. N Engl J Med. 2022;387(24):1–9. doi:10.1056/NEJMoa2206663.
  • Shinkuma S. Dystrophic epidermolysis bullosa: a review. Clin Cosmet Investig Dermatol. 2015;8:275–284. doi:10.2147/CCID.S54681.
  • Bardhan A, Bruckner-Tuderman L, Chapple ILC, et al. Epidermolysis bullosa. Nat Rev Dis Primers. 2020;6(1):78. doi:10.1038/s41572-020-0210-0.
  • Devries DT, Johnson LB, Weiner M, et al. Relative extent of skin involvement in inherited epidermolysis bullosa (EB): composite regional anatomic diagrams based on the findings of the national EB registry, 1986 to 2002. J Am Acad Dermatol. 2004;50(4):572–581. doi:10.1016/j.jaad.2003.09.026.
  • Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the national epidermolysis bullosa registry. JAMA Dermatol. 2016;152(11):1231–1238. doi:10.1001/jamadermatol.2016.2473.
  • Fulchand S, Harris N, Li S, et al. Patient-reported outcomes and quality of life in dominant dystrophic epidermolysis bullosa: a global cross-sectional survey. Pediatr Dermatol. 2021;38(5):1198–1201. doi:10.1111/pde.14802.
  • Intong LRA, Murrell DF. Inherited epidermolysis bullosa: new diagnostic criteria and classification. Clin Dermatol. 2012;30(1):70–77. doi:10.1016/j.clindermatol.2011.03.012.
  • Fine JD, Eady RAJ, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. J Am Acad Dermatol. 2008;58(6):931–950. doi:10.1016/j.jaad.2008.02.004.
  • Bonamonte D, Filoni A, De Marco A, et al. Squamous cell carcinoma in patients with inherited epidermolysis bullosa: review of current literature. Cells. 2022;11(8):1365. doi:10.3390/cells11081365.
  • Robertson SJ, Orrin E, Lakhan MK, et al. Cutaneous squamous cell carcinoma in epidermolysis bullosa: a 28-year retrospective study. Acta Derm Venereol. 2021;101(8):adv00523. doi:10.2340/00015555-3875.
  • Siepe P, Roessing C, Safi A. Dystrophic epidermolysis bullosa: surgical treatment of advanced hand deformities. Handchir Mikrochir Plast Chir. 2002;34(5):307–313.
  • Tang JY, Marinkovich MP, Lucas E, et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2021;16(1):175. doi:10.1186/s13023-021-01811-7.
  • Eichstadt S, Tang JY, Solis DC, et al. From clinical phenotype to genotypic modelling: incidence and prevalence of recessive dystrophic epidermolysis bullosa (RDEB). Clin Cosmet Investig Dermatol. 2019;12:933–942. doi:10.2147/CCID.S232547.
  • Feinstein JA, Jambal P, Peoples K, et al. Assessment of the timing of milestone clinical events in patients with epidermolysis bullosa from North america. JAMA Dermatol. 2019;155(2):196–203. doi:10.1001/jamadermatol.2018.4673.
  • Has C, Hess M, Anemüller W, et al. Epidemiology of inherited epidermolysis bullosa in Germany. J Eur Acad Dermatol Venereol. 2023;37(2):402–410. doi:10.1111/jdv.18637.
  • Feinstein JA, Bruckner AL, Chastek B, et al. Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2022;17(1):367. doi:10.1186/s13023-022-02509-0.
  • Bruckner AL, Losow M, Wisk J, et al. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers. Orphanet J Rare Dis. 2020;15(1):1. doi:10.1186/s13023-019-1279-y.
  • Soro L, Bartus C, Purcell S. Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies. J Clin Aesthet Dermatol. 2015;8(5):41–46.
  • Flannery D, Doyle C, Hickey S, et al. Direct costs of epidermolysis bullosa by disease severity. Acta Derm Venereol. 2020;100(8):adv00116. doi:10.2340/00015555-3456.
  • Grocott P, Graham T, Blackwell R, et al. Individualising wound care research: the woundcare for epidermolysis bullosa project. Wounds UK. 2013;9(3):23–32.
  • Jeon IK, On HR, Kim SC. Quality of life and economic burden in recessive dystrophic epidermolysis bullosa. Ann Dermatol. 2016;28(1):6–14. doi:10.5021/ad.2016.28.1.6.
  • Kirkorian AY, Weitz NA, Tlougan B, et al. Evaluation of wound care options in patients with recessive dystrophic epidermolysis bullosa: a costly necessity. Pediatr Dermatol. 2014;31(1):33–37. doi:10.1111/pde.12243.
  • Condorelli AG, Dellambra E, Logli E, et al. Epidermolysis bullosa-associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives. Int J Mol Sci. 2019;20(22):5707. doi:10.3390/ijms20225707.
  • Ahmad RCS, Bruckner AL. A survey of epidermolysis bullosa care in the United States and Canada. Pediatr Dermatol. 2014;31(2):169–175. doi:10.1111/pde.12258.
  • Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5(1):12. doi:10.1186/1750-1172-5-12.
  • Rashidghamat E, McGrath JA. Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa. Intractable Rare Dis Res. 2017;6(1):6–20. doi:10.5582/irdr.2017.01005.
  • Prodinger C, Reichelt J, Bauer JW, et al. Epidermolysis bullosa: advances in research and treatment. Exp Dermatol. 2019;28(10):1176–1189. doi:10.1111/exd.13979.
  • Gurevich I, Agarwal P, Zhang P, et al. In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial. Nat Med. 2022;28(4):780–788. doi:10.1038/s41591-022-01737-y.
  • Bruckner-Tuderman L, Höpfner B, Hammami-Hauasli N. Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa. Matrix Biol. 1999;18(1):43–54. doi:10.1016/s0945-053x(98)00007-9.
  • VYJUVEK® [beremagene geperpavec-svdt]. Package insert. Krystal Biotech, Inc; 2023. Accessed January 8th, 2024 from https://www.fda.gov/vaccines-blood-biologics/vyjuvek.
  • Manjunath S, Mahajan R, De D, et al. The severity of malnutrition in children with epidermolysis bullosa correlates with disease severity. Sci Rep. 2021;11(1):16827. doi:10.1038/s41598-021-96354-z.
  • Krämer S, Lucas J, Gamboa F, et al. Clinical practice guidelines: oral health care for children and adults living with epidermolysis bullosa. Spec Care Dentist. 2020;40 Suppl 1(Suppl 1):3–81. doi:10.1111/scd.12511.
  • Krämer SM, Serrano MC, Zillmann G, et al. Oral health care for patients with epidermolysis bullosa – best clinical practice guidelines. Int J Paediatr Dent. 2012;22 Suppl 1:1–35. doi:10.1111/j.1365-263X.2012.01247.x.
  • Liy-Wong C, Tarango C, Pope E, et al. Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa. Orphanet J Rare Dis. 2023;18(1):38. doi:10.1186/s13023-022-02448-w.
  • Pope E, Lara-Corrales I, Mellerio J, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67(5):904–917. doi:10.1016/j.jaad.2012.01.016.
  • Mendham JE. Gabapentin for the treatment of itching produced by burns and wound healing in children: a pilot study. Burns. 2004;30(8):851–853. doi:10.1016/j.burns.2004.05.009.
  • Allegaert K, Naulaers G. Gabapentin as part of multimodal analgesia in a newborn with epidermolysis bullosa. Paediatr Anaesth. 2010;20(10):972–973. doi:10.1111/j.1460-9592.2010.03396.x.
  • Boesen ML, Bygum A, Hertz JM, et al. Newborn with severe epidermolysis bullosa: to treat or not to treat? BMJ Case Rep. 2016;2016:bcr2016214727. doi:10.1136/bcr-2016-214727.
  • Saki N, Vahedi S, Parvizi MM, et al. Topical gabapentin 10% in the treatment of epidermolysis bullosa pruritus: a pilot, double-blind, split-site, randomized controlled trial. Dermatol Ther. 2022;35(10):e15767.
  • Darbord A, Hickman G, Pironon N, et al. Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity. J Eur Acad Dermatol Venereol. 2021;36Sep 20; (1):133–143. doi:10.1111/jdv.17671.
  • Denyer JE. Wound management for children with epidermolysis bullosa. Dermatol Clin. 2010;28(2):257–264. viii-ix. doi:10.1016/j.det.2010.01.002.
  • Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E. Epidermolysis bullosa with congenital absence of skin: review of the literature. Pediatr Dermatol. 2020;37(5):821–826. doi:10.1111/pde.14245.
  • Debra of America. “How to: prepare a bath for epidermolysis bullosa (EB).” Accessed January 8th, 2024 at https://www.debra.org/sites/default/files/howto/How%20To%20PDFs/Nov%202023%20Updated%20PDFs/HowTo-PrepareBath-PDF-11.17.2023.pdf.
  • Spaulding L. “Basic Care Tips for Epidermolysis Bullosa (EB): A Parent’s Guide.” Standford Medicine. Accessed January 2nd, 2024 from https://med.stanford.edu/content/dam/sm/dermatology/documents/gsdc/eb_clinic/eb-physician-resources/EB%20care%20tips.pdf.
  • Mellerio JE. Infection and colonization in epidermolysis bullosa. Dermatol Clin. 2010;28(2):267–269, ix. doi:10.1016/j.det.2010.01.004.
  • Stolarczyk A, Perez-Nazario N, Knowlden SA, et al. Bleach baths enhance skin barrier, reduce itch but do not normalize skin dysbiosis in atopic dermatitis. Arch Dermatol Res. 2023;315(10):2883–2892. doi:10.1007/s00403-023-02723-1.
  • Croughan WS, Behbehani AM. Comparative study of inactivation of herpes simplex virus types 1 and 2 by commonly used antiseptic agents. J Clin Microbiol. 1988;26(2):213–215. doi:10.1128/jcm.26.2.213-215.1988.
  • Sanekata T, Fukuda T, Miura T, et al. Evaluation of the antiviral activity of chlorine dioxide and sodium hypochlorite against feline calicivirus, human influenza virus, measles virus, canine distemper virus, human herpesvirus, human adenovirus, canine adenovirus and canine parvovirus. Biocontrol Sci. 2010;15(2):45–49. doi:10.4265/bio.15.45.
  • Asch S, Vork DL, Joseph J, et al. Comparison of bleach, acetic acid, and other topical anti-infective treatments in pediatric atopic dermatitis: a retrospective cohort study on antibiotic exposure. Pediatr Dermatol. 2019;36(1):115–120. doi:10.1111/pde.13663.
  • Petersen BW, Arbuckle HA, Berman S. Effectiveness of saltwater baths in the treatment of epidermolysis bullosa. Pediatr Dermatol. 2015;32(1):60–63. doi:10.1111/pde.12409.
  • Mellerio JE, Robertson SJ, Bernardis C, et al. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines. Br J Dermatol. 2016;174(1):56–67. doi:10.1111/bjd.14104.
  • Abboud L, Leclerc-Mercier S, Bodemer C, et al. Hand surgery in recessive dystrophic epidermolysis bullosa: our experience with dermal substitutes. J Plast Reconstr Aesthet Surg. 2022;75(1):314–324. doi:10.1016/j.bjps.2021.05.056.
  • Tuncer S, Sezgin B, Kaya B, et al. An algorithmic approach for the management of hand deformities in dystrophic epidermolysis bullosa. J Plast Surg Hand Surg. 2017;52(2):80–86. doi:10.1080/2000656X.2017.1338183.
  • Box R, Bernardis C, Pleshkov A, et al. Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa. Orphanet J Rare Dis. 2022;17(1):406. doi:10.1186/s13023-022-02282-0.
  • Saxena A, Lee JB, Humphreys TR. Mohs micrographic surgery for squamous cell carcinoma associated with epidermolysis bullosa. Dermatol Surg. 2006;32(1):128–134. doi:10.1097/00042728-200601000-00029.
  • Hubbard LD. Long-term outcomes in adults with recessive dystrophic epidermolysis bullosa fed by a gastronomy tube in situ. Int J Dermatol. 2016;55(2):181–186. doi:10.1111/ijd.12876.
  • Salera S, Tadini G, Rossetti D, et al. A nutrition-based approach to epidermolysis bullosa: causes, assessments, requirements and management. Clin Nutr. 2020;39(2):343–352. doi:10.1016/j.clnu.2019.02.023.
  • Vetencourt AT, Sayed-Ahmed I, Gomez J, et al. Ocular gene therapy in a patient with dystrophic epidermolysis bullosa. N Engl J Med. 2024;390(6):530–535. doi:10.1056/NEJMoa2301244.