Topical Rapamycin for Fibrofolliculomas

Study Overview
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Brief Summary
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The purpose of the study is to determine whether topical application of rapamycin can lead to reduction in size and/or number of fibrofolliculomas in BHD patients and may prevent the growth of new ones. Secondary we evaluate rapamycin safety, formula acceptance and patient satisfaction.

Official Title
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Topical Rapamycin to Treat Fibrofolliculomas in Birt-Hogg-Dubé Syndrome

Conditions
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Birt-Hogg-Dubé Syndrome

Intervention / Treatment
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* Drug: Rapamycin
* Drug: placebo


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Minimum age of 18 years. At least 10 facial fibrofolliculomas, histologically confirmed. Entered in a screening program and free of malignancy as determined during screening (already had a baseline MRI or CT-scan). Being able to understand instructions. Mutation status must be known. For females: not pregnant and willing to use both oral and barrier contraceptives during the treatment period. Exclusion Criteria: Not capable of informed consent. Age under 18 years. Pregnancy or failure to comply with contraceptive measures. Proven or suspected malignancy of skin or other organs. No histological confirmation. Skin lesions other than fibrofolliculoma that might worsen under sirolimus such as active infections. Not able to comprehend instructions. No proven mutation. Less than 10 fibrofolliculomas. Planned facial surgery in the treatment period. Concomitant disease requiring systemic immunosuppressive treatment Concomitant disease requiring facial topical immunosuppressive treatment or facial topical drugs that interfere with rapamycin during trail period or in the 30 days before start trial. Tendency to form keloids or hypertrophic scars. Drug or alcohol abuse.

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Treatment
Allocation: Randomized
Intervention Model: Single Group Assignment
Masking: Double


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: rapamycin<br>one facial side rapamycin and one facial side placebo | Drug: Rapamycin<br>* Application of rapamycin 1 mg/ml oral solution to one predefined skin area on one facial half, twice daily 0,25 ml, during 6 months. The other facial half will be similarly treated with a placebo.<br>* Other names: Sirolimus;Drug: placebo<br>* Application of placebo to one predefined skin area on one facial half, during 6 months. The other facial half will be similarly treated with rapamycin 1 mg/ml oral solution<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Significant regression of lesions (reduction of fibrofolliculoma size and count) in the treated area. |  | 3 and 6 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Side effects |  | 3 and 6 months |