ARVO LIVE: Patient case and treatment for epidermolysis bullosa

Ophthalmology Times® talked with Alfonso Sabater, MD, PhD where he discusses a patient case of his with epidermolysis bullosa at this year's ARVO meeting.

Video transcript

Editor’s note: Transcript lightly edited for clarity.

Alfonso Sabater, MD, PhD:

So my name is Alfonso Sabater, and I'm an assistant professor at Bascom Palmer Eye Institute, and I'm very happy to share with you a case that we presented here at ARVO this year. This was a patient that I had in clinic with epidermolysis bullosa.

Unfortunately, he was developing significant conjunctivitial scarring symblepharon. We treated this patient in the past with a symblepharon lysis membrane treatments. But unfortunately, the symblepharon was recurring, and this kid was already 12 years old. He had some periods of good vision for some time, but definitely there was no good solution for him.

So, I found that he was being treated with topical gene therapy for some of his skin ulcers with a very promising results. So what we did is, we approached the company that was developing this therapy, specifically Krystal Biotech. We presented this case, and they were very interested in our patient and helped us develop the formulation for ocular treatment. So we approached the FDA, and in a few months, we were able to get approval for compassionate use of this medication on our patient.

So I'm very happy because last year, we were finally able to do the surgery where we did a symblepharon lysis again, superficial keratectomy, we basically clear the cornea. And we started the treatment with a topical gene therapy on the patient. And now it's about 7, 8 months since we did the surgery, and his vision in that eye, it's already 20/40. He's very happy with no, no recurrence. A couple months ago, we did surgery on the second eye. That eye, it's already 20/50, 20/60 vision. So very happy, it's still very soon to tell if the treatment was successful in the long term, but so far, the results are very promising.

So, we're very excited because, as far as we know, I think this is the first time that a topical gene therapy is applied in a human patient, at least in a clinical setting. So we're very happy for our patient, and definitely this, I think this opens a lot of possibilities for future treatment of patients with genetic diseases of the eye.

Again, I'm very, very happy for the patient, and also very thankful to all the people that made this happen, including Krystal Biotech, but also Peter Marinkovich, who's a dermatologist at Stanford University that helped us with this project, and of course all the team at Bascom Palmer institute at the University of Miami that made this happen.