Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 38324486.
- Also identified by DOI 10.1056/NEJMoa2301244.
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Abstract
Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in <i>COL7A1</i>, which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness. Beremagene geperpavec (B-VEC) is a replication-deficient herpes simplex virus type 1-based gene therapy engineered to deliver functional human type VII collagen. Here, we report the case of a patient with cicatrizing conjunctivitis in both eyes caused by dystrophic epidermolysis bullosa who received ophthalmic administration of B-VEC, which was associated with improved visual acuity after surgery.
Medical subject headings
- Collagen Type VII
- Epidermolysis Bullosa Dystrophica
- Genetic Therapy