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February 23, 2024
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Topical gene therapy improves ocular complications of dystrophic epidermolysis bullosa

Fact checked byKristen Dowd
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Key takeaways:

  • More than a quarter of patients with DEB experience ocular complications.
  • A single patient showed complete epithelial healing after the use of the genetic therapy B-VEC eyedrops.

Ophthalmic application of beremagene geperpavec was successful in treating recurrent cicatrizing conjunctivitis in one patient with dystrophic epidermolysis bullosa, according to a study.

“As far as we know this is the first time that topical gene therapy is applied to the eye,” Alfonso L. Sabater, MD, PhD, associate professor of clinical ophthalmology, medical director of the ocular surface program and director of the corneal innovation lab at Bascom Palmer Eye Institute at University of Miami Miller School of Medicine, told Healio.

Conjunctivitis 630x1200
Ophthalmic application of beremagene geperpavec was successful in treating recurrent cicatrizing conjunctivitis in one patient with dystrophic epidermolysis bullosa. Image: Adobe Stock.

Beremagene geperpavec (B-VEC, Krystal Biotech), a noninvasive, herpes simplex virus type I (HSV-1)-based, topical gene therapy, delivers two copies of the COL7A1 gene to treat the rare genetic blistering condition dystrophic epidermolysis bullosa (DEB). It has previously been approved by the FDA in patients with DEB for wound treatment, but it has never before been used to treat ocular effects of DEB.

Suma Krishnan

“Over 25% of patients with DEB develop ocular complications such as corneal erosions, abrasions, blistering and scarring that can lead to impaired vision,” Suma Krishnan, MS, MBA, president of research and development at Krystal Biotech, told Healio. “Disease management varies from supportive care and wound management to surgical interventions to remove scar tissue. There is currently no corrective therapy available.”

In this case report, a single subject with a history of skin blisters and a confirmed DEB diagnosis presented with best-corrected visual acuity of 20/40 in the right eye and 20/80 in the left eye, along with scar tissue formation in bb-vecoth eyes when aged 4 years. The following year he showed ankyloblepharon and hand-motion visual acuity in the left eye.

The patient’s condition continued to worsen and, when aged 13 years, he received surgical symblepharon lysis of the right eye with pannus removal and B-VEC (5×10 PFU/mL) eyedrops three times weekly for 2 weeks and then once weekly.

After 3 months of treatment, the corneal epithelium showed full healing via slit-lamp examination and anterior segment optical coherence tomography.

After 8 months, complete epithelial healing was shown with no evidence of corneal scarring or infiltrates, as well as no corneal abnormality evidence or symblepharon recurrence.

Visual acuity in the right eye improved from hand motion to 20/25 at 8 months.

Alfonso L. Sabater

“After more than 1 year of treatment we haven’t seen any adverse effects from the medication and the treatment has been successful in preventing ocular surface ulcers as well as the formation of scar tissue,” Sabater said. “Patients with epidermolysis bullosa and ocular manifestations may have access to a promising topical therapy in the future, once this treatment becomes approved by the FDA.”

The company is now working with the FDA to develop B-VEC eyedrops for this indication, according to a press release.