Jemima Mellerio, MD: Unmet Needs of Epidermolysis Bullosa Simplex Patients

In this segment of her HCPLive interview, Jemima Mellerio, MD, spoke about the contents of her presentation on new treatment options for epidermolysis bullosa (EB), describing the benefits of the recently-approved beremagene geperpavec (B-VEC) therapy as well as the unmet needs of EB simplex patients.

Mellerio serves as a consultant dermatologist at St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust. Her presentation was presented at the Society for Pediatric Dermatology's Annual Meeting.

She first described the recently approved B-VEC therapy, a modified herpes simplex virus type 1 vector which was designed for patients with dystrophic epidermolysis bullosa (DEB) or the “Butterfly Disease.”

“I think the approach of B-VEC is exciting because it's something that goes on to wounds and it has an enduring effect for months, which is very helpful,” Mellerio said. “As new wounds develop, you can just get on and treat it. And you can treat different anatomical sites, which again is really helpful for people that have lots of wounds in the axialla, or around the neck and the flexors. Really hard areas to dress and areas that aren't going to be suitable for ex-vivo gene therapy grafting.”

She noted that its approval in May should be viewed as a major leap forward for DEB patients. Later, Mellerio described her early experiences helping patients with EB in general.

“I think it can be very difficult because the impact on life is so immense, somebody with severe debt might be spending 4 or 5 hours every day doing their dressing, so they don't get a day off,” she said. “...And that's really painful. Nobody with EB has a day that has not got pain in it as a result of managing the condition. I think when you add in things like perhaps having an esophageal stricture, so you can't eat normal food, you might be nutritionally challenged, because you can't get food in and your requirements because of your skin involvement are so much greater. That puts a lot of pressure on them, as well as things like eye erosion or corneal erosions which can be enormously debilitating.”

Mellerio then went into a description of her views for the future of treatment of EB.

“So I think for the future, I suspect it will be a bit of a mixed approach, trying to target the problems that are greatest for that individual,” she said. “And that might depend on the type of EB that somebody's got and it might depend on the age of the person. So if you're thinking about drug repurposing, something maybe like losartan to reduce fibrosis. You want to get in with that treatment when somebody is very young, before the midterm deformity occurs.”

She further noted that prior to a patient gaining as many chronic wounds in their later years, it may be beneficial for clinicians to help these patients early on.

Later, Mellerio went into a description of EB simplex patients, a population which she believes do not always receive as much focus as they perhaps should from the medical community.

“EB simplex and particularly the localized form is the most common type of EB and although people will classically think of it as a milder form of EB, if you have it, it isn't mild,” she said. It affects so many different aspects of your life: your ability to get around to work, to get to school, and so on.”

Mellerio added that the pain that EB simplex patients experience from blistering, particularly on the feet, is a major issue.

“I think a lot of the studies looking at pain in particular will be helpful for our EB simplex population,” she said. “One of the things about most types of EB simplex is they are autosomal dominant conditions. So it may be that the approach you need to take will be slightly different in terms of silencing mutant alleles. So, things like sort of gene editing might be more of an approach by whichever means than some of the other approaches that have been used for junctional or dystrophic EB.”

To learn more about Dr. Mellerio’s presentation, view the full interview segment above.

The quotes used in this description were edited for clarity.