Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational
Official Title: Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1
Brief Summary:
Background:
Neurofibromatosis Type 1 (NF1) is a genetic disorder in which patients are at increased risk of developing tumors (usually non-cancerous) of the central and peripheral nervous system. The disease affects essentially every organ system.
The natural course of NFI over time is poorly understood. For most patients the only treatment option is surgery. A better understanding of NF1 may be helpful for the design of future treatment studies.
Objectives:
To evaluate people with NF1 over 10 years in order to better understand the natural history of the disease.
To characterize the patient population and to examine how NFI affects patients quality of life and function.
Eligibility:
Children, adolescents, and adults with NF1.
Design:
Participants have a comprehensive baseline evaluation including genetic testing, tumor imaging, pain and quality-of-life assessments, and neuropsychological, motor and endocrine evaluations.
Patients are monitored every 6 months to every 3 years, depending on their individual findings at the baseline study. Tests may include the following, as appropriate: