Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
|Epidermolysis Bullosa Simplex Epidermolysis Bullosa Simplex Kobner Weber-Cockayne Syndrome||Drug: Sirolimus, 2% Drug: Vehicle||Phase 2|
|Study Design:||Allocation: Randomized
Intervention Model: Crossover Assignment
Masking: Triple (Participant, Care Provider, Investigator)
Primary Purpose: Treatment
|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)|
- 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.
- 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 ]
|Study Start Date:||May 2016|
|Estimated Primary Completion Date:||December 2017 (Final data collection date for primary outcome measure)|
Sirolimus, 2% topical ointment will be used during randomization
|Drug: Sirolimus, 2%|
Placebo Comparator: Vehicle
A placebo topical ointment will be used during randomization.
Other Name: Placebo
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT02960997
|Contact: Heather I Cohn, MD, PhDemail@example.com|
|Contact: Joyce M Teng, MD, PhDfirstname.lastname@example.org|
|United States, California|
|Palo Alto, California, United States, 94304|
|Contact: Heather I Cohn, MD, PhD email@example.com|
|Contact: Elidia Tafoya, MPH 650-724-1982 firstname.lastname@example.org|
|Principal Investigator: Heather I Cohn, MD, PhD|
|Sub-Investigator: Joyce M Teng, MD, PhD|
|Study Chair:||Joyce M Teng, MD, PhD||Stanford School of Medicine|