Research OpportunityTitle: A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1-Related Plexiform Neurofibromas
Neurofibromatosis type 1 is associated with an increased risk of developing tumors of the central and peripheral nervous system. Between 20-44% of patients with NF1 develop plexiform neurofibromas. These tumors can cause significant disfigurement and compression of vital structures within the body. Currently, there is no standard treatment for large or complex plexiform neurofibromas except for surgery. However, surgery often is not a permanent solution for these tumors, and no effective drug therapy exists.
This is a research study that involves a medication called Rapamycin (also known as Sirolimus), which is taken as an oral solution. Participation involves taking the medication and then having regular monitoring through MRIs and blood work to establish the effect of Rapamycin on plexiform neurofibromas. The goals of the study are to evaluate the effect of Rapamycin on size and volume of the plexiform neurofibroma, the response to the medication concerning pain and quality of life, and metabolism of the drug by monitoring blood levels.
- Must have a diagnosis of neurofibromatosis type 1 (NF1)*
- Must be at least 3 years old
- Must have a plexiform (deep tissue) neurofibroma that either is growing bigger or is large enough to be medically significant
The following consent form provides more details. If you think you may be eligible for this study and you would like to talk to someone in person about your interest in qualifying for or participating in this research, please contact us by phone or e-mail.
University of Alabama at Birmingham
Contact: Christina Barger, M.S., CGC (Clinic Coordinator)
Consent Form - Adults (pdf)
Consent Form - Age 7 to 12 (pdf)
Consent Form - Age 13 to 18 (pdf)
*This trial is specific to patients with neurofibromatosis type 1. There has been no evidence that individuals with neurofibromatosis type 2 or schwannomatosis would benefit from this clinical trial.