Principal Investigator: Bruce Korf, MD, PhD

Purpose
Neurofibromatosis type 1 (NF1) affects many systems of the body, and the specific features and complications can be highly variable from one individual to the next. For example, some people have a large number of neurofibromas on their skin whereas others have few or none at all. The reasons for this variability are not known. One possible contributor may be genetic differences between individuals. This includes differences in their NF1 gene mutation as well as differences in other genes that may modify the way neurofibromatosis is expressed.

We are conducting a research study aimed at identifying some of the genes that may influence the number of neurofibromas a person with NF1 might develop. Adults (19 years of age and over) who have been diagnosed with NF1 may be eligible for this study. Participants need to have an affected parent or sibling (though other family members do not need to participate in the study). For most people, participation in the study would involve having anonymous photographs taken (i.e., that do NOT show your face), answering a questionnaire, and donating a blood sample of about 5 to 10 milliliters (1 to 2 teaspoons) upon which genetic studies will be performed. Participants who can be seen at the University of Alabama at Birmingham may be eligible for a detailed physical examination and whole body magnetic resonance imaging (MRI) study.

Study Type
Investigational

Eligibility
Inclusion Criteria
• Adult (at least 19 years old)
• Diagnosis of Neurofibromatosis Type 1 by standard clinical criteria
• Family history of NF1 in a parent or sibling
For those asked to have MRI studies,
• Participant must not have a metallic implant that will make them unable to proceed with the imaging.
• No presence of a medical or psychological condition that will make the individual unable to tolerate MRI studies or anesthesia (if needed).
• No inability to image tumor or define tumor margins by MRI (which may be determined after the initial study).

Exclusion Criteria
• Individuals who have received any medication designed to either reduce the size or number of neurofibromas.
• Individuals who have had more than ten neurofibromas removed from their back within the past five years.
• Individuals with a large plexiform neurofibroma on the back, thigh, or abdomen that crosses the midline.

Expected Total Enrollment
1000 Participants

Contact Information
Alabama
University of Alabama at Birmingham, Birmingham, AL
Dr. Bruce Korf-PI
Bambi Burns, BSN, RN- Study Coordinator (205)934-9525 bburns@genetics.uab.edu
Toll Free: 1-866-UAB-4DNA

We are currently adding additional sites for this study. Please contact Bambi Burns, BSN, RN for further information.

*If you are interested in becoming a collaborating physician on this study, please contact Dr. Bruce Korf or Bambi Burns, BSN, RN.

For more information contact Bambi Burns, BSN, RN the lead study coordinator by telephone at (205) 934-9525, toll free: 1-866-822-4362 or by email at bburns@genetics.uab.edu.