Gene Therapy for Skin Wounds Improved Vision

The boy, who has recessive dystrophic epidermolysis bullosa (DEB), improved from hand motion (log₁₀ of the minimal angle of resolution [logMAR] 3.00) before surgery to 20/25 (logMAR 0.10) without correction at eight months post-surgery. 

Ophthalmic administration of beremagene geperpavec (B-VEC; Vyjuvek) was applied directly to the right eye.  

B-VEC is a replication-deficient herpes simplex virus type 1 (HSV-1)-based gene therapy for partial thickness skin wounds in adults and paediatric patients at least six months old. It was approved by the United States Food and Drug Administration late last year. 

Our data support further investigation of B-VEC in the care of patients with dystrophic epidermolysis bullosa with ocular surface involvement

When used in the case of cicatrising conjunctivitis, there was no recurrence of symblepharon or corneal scarring for up to eight months post-surgery, the authors noted in the New England Journal of Medicine.¹ 

Furthermore, no signs of ocular HSV-1-like disease emerged in the boy. 

“Our data support further investigation of B-VEC in the care of patients with dystrophic epidermolysis bullosa with ocular surface involvement,” the study authors said, acknowledging that larger studies and longer follow-up are needed. 

DEB is a rare genetic blistering disease caused by mutations in COL7A1, the gene encoding type VII collagen (C7). Extensive skin blistering develops from minor trauma. Over time, repeated blistering and fibrosis can lead to squamous-cell carcinoma, life-threatening infections, and limb deformities.² 

References 

1. A Vetencourt, A.T., Sayed-Ahmed, I., Gomez, J., et al., Ocular gene therapy in a patient with dystrophic epidermolysis bullosa, N Engl J Med 2024; 390:530–535. DOI: 10.1056/NEJMoa2301244.  

1. Guide, S.V.., Gonzalez, M.E., Bağcı, I.S., et al., Trial of beremagene geperpavec (B-VEC) for dystrophic epidermolysis bullosa, N Engl J Med 2022; 387:2211–2219. DOI: 10.1056/NEJMoa2206663.