This pilot study will look at whether the topical Birch Triterpenes (Filsuvez) gel is safe and helpful for adults and children 6 months of age and older who have moderate to severe epidermolysis bullosa simplex (EBS). The study will examine whether the gel can reduce the number of blisters, help wounds heal faster, and improve comfort by reducing pain and itching and making daily activities easier.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
10
All the participants will apply Filsuvez about 3% BSA for 3 months.
Stanford University School of Medicine
Palo Alto, California, United States
Change in Blister surface area reduction of the target treatment areas
Clinical photography will be used to assess changes in disease severity within the TLA and recurrence of blistering by measuring blister surface area in the TLA over time.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in EBSdart scores
Epidermolysis Bullosa Simplex Disease Activity and Response Tool (EBSdart) grades blistering and erosions/ulcerations in all body regions and fissures and keratoderma on the palms and soles, including the area affected. IGA regional subscores are recorded separately for the palms, soles, trunk, upper extremities, and lower extremities, using palm- and sole-specific criteria where applicable. A score range from 0-99, where higher scores indicate severe condition.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Palmoplantar Blister Surface Area
Clinical photography will be used to assess changes in disease severity within the Palmoplantar blister surface area and recurrence of blistering by measuring blister surface area in the Palmoplantar blister surface area over time.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Pain Score in Target Lesional Areas
Using the adult or pediatric Patient-Reported Outcomes Measurement Information System (PROMIS) Measure form, peak pain during IP application will be reported on a weekly basis. Pain will be compared between baseline and at the end of treatment. The appropriate PROMIS Pain Interference Short Form will be administered based on the participant's age: the Adult Pain Interference Short Form 8a, the Pediatric Pain (8yo+) Interference Short Form 8a, or the Parent Proxy Pain (6m-8yo) Interference Short Form 8a. Each item is scored on a 5-point Likert scale (1-5), where higher scores indicate greater pain interference with daily activities (1 = Not at All; 5 = Very Much).
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Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Itch Score in Target Lesional Area
Using the adult or pediatric PROMIS Measure form (8 yo +), itch characteristics will be reported on a weekly basis to track trends in how itch impacts daily living in Birch triterpenes at baseline versus 3 mo post treatment. The appropriate PROMIS Pain Interference Short Form will be administered based on the participant's age: the Adult Itch Interference Short Form 8a, the Pediatric Itch Interference Short Form 8a, or the Parent Proxy Itch (6m-8yo) Interference Short Form 8a. Each item is scored on a 5-point Likert scale (1-5), where higher scores indicate greater pain interference with daily activities (1 = Never; 5 = Almost always).
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Quality of Life
Participant's quality of life metrics will be reported on a weekly basis to track trends at baseline versus 3 mo post Birch Triterpenes treatment. The Quality of Life in Epidermolysis Bullosa (QOLEB) questionnaire is a disease-specific instrument consisting of 17 items. Each item is scored on a 4-point scale (0-3), yielding a total score ranging from 0 to 51, with higher scores indicating poorer quality of life and greater disease burden.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Modified Foot Function Index(mFFI)
Participant's mFFI will be reported on a biweekly basis to track changes with Birch Triterpenes. The Modified Foot Function Index (mFFI) consists of 27 items that assess foot pain, disability, and activity limitation. Each item is rated on an 11-point numeric rating scale (0-10), where 0 indicates no pain/no difficulty/Not at all and 10 indicates the worst pain imaginable or greatest difficulty/all the time. Total scores range from 0 to 270, with higher scores representing worse foot function and greater disability.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Safety: Incidence of treatment-emergent adverse events (TEAEs)
Safety monitoring will include clinical chemistry tests, physical examinations (including assessment of TLA), and vital sign measurements. These assessments along with AE reviews will identify potential TEAEs. Safety monitoring will include clinical laboratory testing (blood and urine) and urine pregnancy testing (as appropriate) only at Visit 1/Screening and visit 4/EOS.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).
Change in Palmoplantar Blister Surface Area- EBSDart scores
EBSdart grades blistering and erosions/ulcerations in all body regions and fissures and keratoderma on the palms and soles, including the area affected. IGA regional subscores are recorded separately for the palms, soles, trunk, upper extremities, and lower extremities, using palm- and sole-specific criteria where applicable. A score range from 0-99.
Time frame: From enrollment to the end of treatment at Week12 and Week20 (EOS).