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

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Interventional

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)

Brief 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.

Detailed Summary:

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.


Sponsor: Stanford University

Current Primary Outcome: Foot Health Status Questionnaire [ Time Frame: Change from Baseline to End of Treatment completion at 32 Week ]

Foot function utilizing the validated Foot Health Status Questionnaire (FHSQ) as a change from baseline to the end of each treatment.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • FitBit® / pedometer [ Time Frame: Baseline and through study treatment completion at 32-weeks ]
  • plantar defect size using 3D Photography [ Time Frame: Change in total defect area from Baseline, clinical visits at Week 4, Week 12, Week 16, Week 28, through study treatment completion at 32-weeks ]
    Plantar defect size measurements using 3D photography (% change in total defect area) from baseline to the end of each treatment.
  • Child Dermatological Quality of Life Questionnaire [ Time Frame: Baseline and through study treatment completion at 32-weeks ]
  • The Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI) Disease Severity Scale [ Time Frame: Baseline and through study treatment completion at 32-weeks ]


Original Secondary Outcome: Same as current

Information By: Stanford University

Dates:
Date Received: January 9, 2017
Date Started: May 2016
Date Completion:
Last Updated: November 8, 2016
Last Verified: November 2016