Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study

Category Primary study
Registry of Trialsclinicaltrials.gov
Year 2016
: Epidermolysis bullosa (EB) simplex is a rare orphan disease caused by a mutation in DNA leading to abnormal dominant keratins in the skin. Patients with EB simplex develop lifelong painful thick soles on their feet, and current standard of care is supportive. This pilot study will target the dominant mutant keratin proteins in the skin to ameliorate the severity of EB simplex. The purpose is to improve the function of EB simplex feet with an application of topical sirolimus, 2%. The investigators plan on inhibiting the mTOR pathway to down regulate the translation of defective keratin proteins and work through anti proliferative pathways.
Epistemonikos ID: 067945d20cde3f3b3665dfe2b75fb44c7a3e5488
First added on: May 20, 2024