everolimus for treatment of disfiguring cutaneous lesions in neurofibromatosis1 crad001cus232t

Conditions: Neurofibromatosis 1

Summary: this trial is evaluating the use of oral everolimus to determine if there is a reduction in the size of the disfiguring cutaneous lesions in patients with neurofibromatosis 1 over a 6 month period. the evaluation will be done by 3d photography measuring volume with the lifeviz micro system.

qualifying subjects will have a diagnosis of neurofibromatosis 1 and have disfiguring cutaneous lesions that can be measured by photography. the subjects will have photographs of the target lesions,biopsies of the lesions,and safety blood laboratory tests at 3 time points (baseline, 3 months and 6 months which is end of treatment). everolimus will be taken orally for 6 months. subjects will visit the clinic monthly for an exam and adverse event evaluation. laboratory testing will be done at these visits if determined necessary by the pi.

Eligibility criteria:
inclusion criteria: 1. patient is at least 18 years of age at the time of enrollment 2. informed consent 3. compliance with trial requirements (photography, lab draws, medication schedules, and study visits) 4. diagnosis of nf 1 and has cutaneous neurofibromas that are located in in a region amenable to photography 5. females of child bearing potential must not be pregnant as confirmed by a negative pregnancy test (blood beta-hcg level) prior to study enrollment and must agree to use appropriate contraceptive methods for the duration of the trial 6. patient must have adequate liver function as shown by, total bilirubin \</= 2.0 mg/dl, alt and ast \</= 2.5 x uln, inr \</= 2 8. patient must have adequate renal function, serum creatinine \</= 1.5 x uln 9. patient must have adequate lipid profile, fasting serum cholesterol \</= 300 mg/dl or \</= 7.75 mmol/l, fasting triglycerides \</= x uln exclusion criteria: 1. patients currently receiving anticancer therapies or who have received anticancer therapies within 4 weeks of the start of everolimus (including chemotherapy, radiation therapy, antibody based therapy, etc.) 2. known intolerance or hypersensitivity to everolimus or other rapamycin analogs (e.g. sirolimus, temsirolimus) 3. known impairment of gastrointestinal (gi) function or gi disease that may significantly alter the absorption of oral everolimus 4. uncontrolled diabetes mellitus despite adequate therapy 5. patients who have any severe and /or uncontrolled medical conditions such as: unstable angina pectoris, symptomatic congestive heart failure, myocardial infarction \ /- 3 years, patients with a history of non compliance to medical regimens or who are considered potentially unreliable or will not be able to complete the entire study, patients who are currently part of or have participated in any clinical investigation with an investigational drug within 1 month prior to dosing, pregnant or nursing (lactating) women, women of child-bearing potential (wocbp), defined as all women physiologically capable of becoming pregnant, unless they are using highly effective methods of contraception during dosing of study treatment. highly effective contraception methods,male patients whose sexual partner(s) are wocbp who are not willing to use adequate contraception, during the study and for 8 weeks after the end of treatment. -

Keywords: neurofibroma nf-1 everolimus mtor inhibitor