Birt-Hogg-Dubé Syndrome
Conditions
Brief summary
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.
Interventions
DRUGRapamycin
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.
DRUGplacebo
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
Sponsors
Myrovlytis Trust
Maastricht University Medical Center
Study design
Allocation
RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
DOUBLE (Subject, Investigator)
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Significant regression of lesions (reduction of fibrofolliculoma size and count) in the treated area. | 3 and 6 months |
Secondary
| Measure | Time frame |
|---|---|
| Side effects | 3 and 6 months |
Countries
Netherlands
Outcome results
None listed