Developing a Next-Generation Drug to Treat Epidermolysis Bullosa (EB)

Student: Connor Ratycz, 2016-2017

Sponsor: Amicus Therapeutics, Princeton, NJ

Epidermolysis bullosa (EB) is a rare genetic connective tissue disease which 30,000 individuals in the US and 400,000 worldwide. Many genetic and symptomatic variations of EB exist, but all forms share the characteristic symptom of fragile skin that blisters and tears from minor injuries, scratching, and removal of adhesive tape. EB is a result of a mutation in any of the twelve proteins required for skin development or attachment of the epidermis and dermis skin layers. In severe manifestations, blisters occur internally, lining the mouth and organs which lead to serious complications or death. There is currently no effective or FDA approved treatment for EB. Symptomatic treatment is the only option available for patients and includes pain management, bacterial infection prevention, itching, daily wound care, and bandaging. Amicus Therapeutics plans to introduce Zorblisa, a novel topical therapy for treatment of blisters and lesions in EB patients. Zorblisa is currently in Phase III clinical trial, with reported success in Phase II. To improve wound healing efficacy of Zorblisa, I will work with Amicus to introduce a technology using allantoin or allantoin-derivatives which are shown to accelerate chronic lesion closure.