By: Josh Baxt | February 07, 2024 | 4 min. read| Share Article Summary
Researchers at the University of Miami Miller School of Medicines Bascom Palmer Eye Institute have shown that a new gene therapy, B-VEC (VYJUVEK), is effectively treating severe eye issues in a pediatric patient with a rare disease, dystrophic epidermolysis bullosa (DEB), that also affects skin and other organs.
This is the first time topical gene therapy has been used in the eye. The case study was published on February 7 in the New England Journal of Medicine.
I had been treating this patient for several years, and there was little we could do for him, said Alfonso L. Sabater, M.D., Ph.D., associate professor of clinical ophthalmology at the Miller School and director of Bascom Palmers Corneal Innovation Lab. We tried surgery, platelet-rich plasma and other approaches, but nothing worked, until now.
Caused by a mutation in the COL7A1 gene,DEBimpairs typeVII collagenproductionand can leadto severe blisteringand scar formationon skin, inside the mouth and stomach and on the eyes.
The patient, now 14,had beencoming to Bascom Palmerfor DEB treatmentsince he was 4.With blisters on his skin and eyes,and other issues, hehadlostsignificant visionand had an associated condition,symblepharon, in which the eyelid and eyestucktogether.
He couldnt see much at all, said Dr. Sabater, who has been treating the patient since he was 8. Every timeweconductedsurgery, the scar tissuewouldcome back,and it wasjustgetting worse.I told him,Lets wait until we can find something that can fix theunderlyinggenetic problem.
B-VECwas designed to do just that.The topical gelcontainsre-engineeredherpesvirusesarmed withfunctionalCOL7A1 genes.When B-VEC is applied,thevirusesdelivertheirgenetic payload, generating more normal type VII collagen production.
As soon as he learned about B-VEC,Dr. Sabaterrecognized its potential to help his patient and possibly others. However, before that could happen, they would have to conduct preclinical research toprovethe therapy would beeffectivein eyes.
The team worked closelywithB-VEC developer Krystal Biotech toreformulate the therapy as an eyedrop andconduct the studies. Because the therapywas already in clinical trials forskin blistering, it was relatively easy togainexpanded accessto treat DEB patients with eye issues.
Once they received the go-ahead from the Food & Drug Administration, the team began administering B-VEC to the patient,withexcellent results.
Thedifference this timewasthat,when we started applying the gene therapy, thescartissue was not coming backafter surgery, said Dr. Sabater.Its been ayear and a half,and it hasnt grown back.Inthe past,itwouldhave comeback in three months.Now that he can see, he no longer needshismom tohelphimwith his homeworkandhe can watch TVandplay video games.He hasnormal vision.
Tags: Bascom Palmer Eye Institute, Dr. Alfonso Sabater, dystrophic epidermolysis bullosa, gene therapy
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Topical Gene Therapy Effective in Treating Debilitating Eye Condition - InventUM - University of Miami
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