Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
Status:
Active, not recruiting
Trial end date:
2020-12-13
Target enrollment:
Participant gender:
Summary
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.