A gene therapy used to treat skin wounds has improved visual acuity in a 13-year-old boy with cicatrising conjunctivitis due to a rare genetic disease.

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 par tial thickness skin wounds. It was approved for use in the United States last year.

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 available at mivision.com.au