A 14-year-old boy whose dystrophic epidermolysis bullosa (DEB) caused his corneas to blister and scar has had his sight restored from perception of hand motion to 20/25, thanks to a new topical gene therapy.
DEB, a genetic condition that causes the skin and mucous membranes to become fragile and form painful blisters, affects just 3.3 million people worldwide. A mutation in the COL7A1 gene means DEB patients do not produce collagen to prevent the wounds caused by even minor friction.
The boy’s US ophthalmologist, Associate Professor Alfonso Sabater, medical director of Bascom Palmer’s Ocular Surface Program, was granted ‘compassionate use’ permission by the FDA to try gene therapy company Krystal Biotech’s Vyjuvek (beremagene geperpavec) as an eye drop. After seven months, the boy’s visual acuity had improved to 20/40 and is now stable at 20/25, said A/Prof Sabater.
Vyjuvek delivers functioning COL7A1 genes via a herpes-simplex virus type 1 vector and was FDA approved for use on skin wounds in May 2023.
