CompletedPhase 2

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

United States8 participantsStarted 2016-05

Plain-language 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.

Who can participate

Age range

4 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: Subjects must: * Be capable of understanding the purpose and risks of the study and sign a written Informed Consent Form (ICF); Legally authorized representative of subjects willing and able to give consent for children 4-18 yo. * Be male or female with a diagnosis of EBS * Minimum EBDASI feet activity score of 2/10 * Age - 4 years or older * Ability to complete 12 study visits within a 40-week period, each for approximately 30-60 minutes. * Anticipated life expectancy ≥52 weeks. * Males and females of childbearing potential should be using an effective means of contraception. * Laboratory values within the range of normal for the participating institution unless the PI feels they are not clinically relevant * Be able to comply with all study requirements Exclusion Criteria: * Allergy to sirolimus or components of the vehicle ointment * Pregnancy, breast feeding * Prior history of liver disease * Serious known concurrent medical illness or infection, which could potentially present a safety risk and/or prevent compliance with the requirements of the treatment program. * Known immunodeficiency virus or syndrome including those with: * Acquired Immunodeficiency Syndrome (AIDS) * Human Immunodeficiency Virus (HIV) * Hepatitis B * Prior history of grafting surgeries or other surgeries in the dermatologic treatment area * History of significant condition in the dermatologic treatment area such as trauma, which could impair evaluation for the treatmen…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Foot Health Status Questionnaire, Foot Function Domain Score

Timeframe: Week 0 and week 12 of the respective treatment period

Foot Health Status Questionnaire, Physical Activity Domain Score

Timeframe: Week 0 and week 12 of the respective treatment period

Trough Concentration of Sirolimus

Timeframe: Week 12

Trial details

NCT IDNCT02960997

SponsorStanford University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2018-12-14

Results submitted2019-12-14

View on ClinicalTrials.gov More Epidermolysis Bullosa Simplex trials

Plain-language summary

Who can participate

Age range

4 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Foot Health Status Questionnaire, Foot Function Domain Score

Timeframe: Week 0 and week 12 of the respective treatment period

Foot Health Status Questionnaire, Physical Activity Domain Score

Timeframe: Week 0 and week 12 of the respective treatment period

Trough Concentration of Sirolimus

Timeframe: Week 12