Tuberous Sclerosis Complex: Facial Angiofibroma Skin Cream
Condition: Facial Angiofibroma
MeSH terms: Tuberous Sclerosis; Angiofibroma; Facies
Study type: Interventional
Phase: Phase 1

Summary: 
      The objective of this study is to evaluate the safety and efficacy of a 0.1% formulation of
      rapamune cream in children with Tuberous Sclerosis Complex (TSC), ages 3 years and older, who
      have facial angiofibromas that would benefit from treatment.
    

Detailed description: 
      This is an open label, prospective single center study. Patients that are seen in our
      regional Tuberous Sclerosis Complex Clinic and have facial angiofibromas that would benefit
      from this cream and who wish to be involved in this study would be enrolled. We anticipate
      enrolling 12-15 patients the first year. Patients will have pictures of their facial
      angiofibromas taken immediately prior to entry into the study. They will then be prescribed
      0.1% rapamune topical formulation to apply twice daily to their skin for the first two weeks
      and then once daily. If level is above 0, will re-check serum lipids, cbc, and repeat levels
      every three-four months and monitor the patient for symptoms. Patients will return at one
      month and three months to obtain serum rapamune levels along with pictures, then they will be
      seen intermittently throughout the first year with photographs of their face taken at the one
      month visit, 3 month visit, six month visit and twelve month visit. We will ask the parents
      about any side effects from the medication during the entire time patients are using the
      topical rapamune. We will monitor the facial lesions as well. We will assess for skin
      sensitivity, pain, erythema, or pruritus. If skin irritation results from the drug, then we
      will stop use of the drug. Parents will sign an informed consent allowing their child's
      picture to be taken and allowing us to summarize the data for publication at the end of this
      study.

      This study will be the first study using a consistent formulation to make a 0.1% rapamune
      cream, and this will be performed under the direction of myself and Dr. Almoazen in the
      University of Tennessee Health Science Center(UTHSC) College of Pharmacy compounding
      laboratory. Only patients who are thought to be reliable for the follow up visits and to use
      the cream appropriately will be enrolled in the study. This study meets the FDA criteria for
      an Investigational New Drug(IND) exemption.

      The adverse events noted in the package insert for rapamune cream are all based on systemic
      administration of the medication, primarily to adults with other diseases. In our clinical
      experience, with topical use there is no absorption and we have not noted any side effects.
    

Intervention name(s): Rapamune
Intervention type(s): Drug
Intervention description(s): Small amount of 0.1% rapamune ointment applied topically to affected facial areas twice daily for the first two weeks, then once daily.
Other intervention name(s): Sirolimus
Intervention MeSH terms: Sirolimus
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Treatment
Keywords: Rapamune; Topical; Pediatric; Safety; Efficiency; Angiofibroma; Skin Cream