Epidermolysis Bullosa Simplex Clinical Trial
Official title:
A Prospective, Double-Blind, Cross-Over, Pilot Study to Assess Safety and Efficacy of Topical Sirolimus 2% in the Treatment of Plantar Blistering in Patients With Epidermolysis Bullous Simplex (EBS)
: 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.
The proposed 40 week pilot study being conducted is a prospective, double-blind, randomized,
placebo-controlled crossover study. Participants will be assigned to treat both feet with
either topical sirolimus, 2% cream daily or placebo (vehicle-control) for 12 weeks, followed
by a 4 week washout period, then re-treatment to both feet will occur by the cross-over
intervention.
These studies will exploit the naturally occurring transcriptional regulation of keratin
sequences, the known gene aberration causing EB simplex, and assess the potential for mTOR
pathway inhibition in treatment of the patient's plantar lesions. The objective of this study
is to assess (1) the safety of topical rapamycin for plantar lesions for the treatment of EB
simplex, and 2) test if topical rapamycin to improves the clinical severity of lesional skin,
including pain and itch, in subjects with EB simplex at the end of treatment versus baseline
and compared to an intrasubject placebo treated control. Wound size measurement, quality of
life evaluation will be assessed using epidermolysis bullosa (QOLEB), and EB disease activity
and Scarring Index (EBDASI). With the results of this pilot study, physicians would be able
to transition from supportive care (the current state of the art for EB simplex) to targeted
molecular therapeutics, leading to improved mobility and quality of life for patients with EB
simplex.
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