Pilot Study of Topical Sirolimus 2% Ointment for EBS

Stanford is currently conducting a pilot study enrolling individuals above 4 years of age with epidermolysis bullosa simplex (EBS). The study focuses on the treatment of painful keratoderma (thickened skin & blisters) of the feet using topical sirolimus. The medication has been studied for other patients with similar skin conditions and showed promise. It helps to reduce the pain, skin thickness on the sole of the feet so it is easier for affected individuals to walk and live a more productive life. Volunteers including children above 4 years of age as well as adults may participate in this study. The goal of the study is to discover new treatment for individuals affected by EBS and have unmet medical needs.

During the study, volunteers will be asked to apply the ointment twice daily.  Participants must be willing to attend 8 clinic visits. During these visits, we will monitor participants’ overall health and assess clinical responses to treatment of both feet. Laboratory tests will be obtained during each study visit to assure the well-being of the volunteers. There will be two treatment phases: participants will be randomized at the beginning to receive either placebo or topical sirolimus 2% ointment to apply on both feet for 12 weeks, the treatments will then be held for 4-weeks during the washout period, then treatment will be resumed for another 12 weeks with an alternative intervention. This will allow all participants to receive topical sirolimus treatment for 12 weeks during the study. All study-related medications will be provided free of charge. Limited transportation reimbursement and stipend will be provided to participants as well.