Clinical Trial: Natural History Study of Patients With Neurofibromatosis Type I
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:
- Medical history, physical examination and blood tests.
- Whole body and face photography to monitor visible deformities.
- Neuropsychological testing, quality-of-life evaluations, motor function tests, e
Detailed Summary:
BACKGROUND:
Neurofibromatosis Type 1 (NF1) is an autosomal dominant, progressive genetic disorder characterized by diverse clinical manifestations. Patients with NF1 have an increased risk of developing tumors of the central and peripheral nervous system including plexiform neurofibromas (PN), dermal neurofibromas, optic pathway tumors, brain tumors, malignant peripheral nerve sheath tumors (MPNST), juvenile myelomonocytic leukemia, and pheochromocytomas. In addition, NF1 manifests in essentially every organ system, with for example, skeletal and vascular abnormalities, and cognitive deficits. Thus, the care for individuals with NF1 requires a multidisciplinary approach. The natural history of NF1 related tumor and other manifestations is poorly understood, and for most NF1 related tumor manifestations the only standard treatment option is surgery. The NIH Clinical Center provides the ideal infrastructure for evaluation of the natural history of rare diseases. A better understanding of the natural history of NF1 related tumor and other manifestations will be helpful for the design of treatment studies. The NCI, POB has an active clinical trials program for NF1 related tumor manifestations including PN, MPNST, and in collaboration with Dr. Douglas Stewart from the NHGRI, dermal neurofibromas. Unlike individuals with refractory solid cancers, individuals with NF1 have near normal life expectancy, and their benign tumors progress more slowly than solid cancers. Individuals with NF1 may thus participate in multiple treatment trials.
OBJECTIVES:
The overall purpose of this descriptive NF1 Natural History study is to serve as an umbrella protocol for the ongoing NF1 clinical trials program to allow the longitudinal evaluation of individuals with NF1 for NF1 related tumor and non
Sponsor: National Cancer Institute (NCI)
Current Primary Outcome: To serve as an umbrella protocol for ongoing NF1 clinical trials program to longitudinally characterize and analyze NF1 related tumor and non-tumor manifestations, and to develop a better understanding of the biology of NF1 related manifestation... [ Time Frame: End of Study ]
Original Primary Outcome:
Current Secondary Outcome:
Original Secondary Outcome:
Information By: National Institutes of Health Clinical Center (CC)
Dates:
Date Received: June 17, 2009
Date Started: February 21, 2008
Date Completion:
Last Updated: April 21, 2017
Last Verified: March 21, 2017
