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

• Status: Active, not recruiting
• Trial end date: 2020-12-13
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: Stanford University
• Treatments: Everolimus; Sirolimus

Criteria

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 treatment of EBS or non-healing chronic wound.

• Use of other investigational drugs within 30 days of the screening visit and/or has not recovered from any side effects of prior investigational drugs or procedure in the affected area (e.g., a biopsy).

• Use of acitretin within the last 1 month

• Use of Roaccutane within last 3 months

• Botox injections to the feet within the last 6 months.

• Participant is planning extra physical activities within the next 3 months.

• Amputated foot