Research OpportunityTitle: Progression of Dermal Neurofibromas in Neurofibromatosis Type 1 and Relation to NF1 Mutations
A hallmark of NF1 is the development of skin tumors called neurofibromas. These tumors are present in almost all adults with NF1. The progression of these skin tumors is the focus of this research study. We will follow the number and size of skin tumors in up to 60 adults with NF1 and determine if there are genetic differences that would help explain the varying growth rates among tumors. With this information, future studies can be designed to monitor the response of the tumors to medications.
This two-year study will involve visits approximately every four months. Defined regions on the back, stomach/chest, arm, or leg containing skin tumors will be photographed with a digital camera and imaged with a 3D scanner. The first visit is expected to take two hours, with follow-up visits lasting approximately one hour. The final visit of the study will involve removal of six skin tumors from the back, abdomen, arm, and/or leg. Skin tumors will be removed with a shave biopsy, a technique that removes the portion of the tumor that projects above the surface of the skin and is routinely performed in dermatology offices.
- Males and females ≥ 19 years of age who have been diagnosed with NF1
- Known germline mutation or willingness to have genetic testing performed (a blood test) at UAB
- Presence of at least six discrete cutaneous neurofibromas measuring ≥ 4 mm in diameter on the trunk and/or extremity
- Ability/willingness to participate in the study, including travel to UAB for required evaluations and biopsy of cutaneous tumors at the end of the observation period
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 (pdf)