Conditions: Neurofibromatosis 1
Keywords: Neurofibroma NF-1 Everolimus mTOR inhibitor
Allocation: NA | Intervention model: SINGLE_GROUP
Enrollment: 24
Healthy volunteers: no

Brief 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.

Detailed description:
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.

Arms:
arm 1: This is a single arm intervention using Everolimus

Interventions: intervention 1: Everolimus
Intervention descriptions: intervention 1: Everyone in the study will receive Everolimus at a starting dose of 10 mg daily and will be adjusted up or down by 2.5 mg at 2 week intervals to attain a trough concentration of 5-15 ng/ml

Protocol document: