Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Overview

The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.

Neurofibromatosis type 1 (NF1) is a common genetic disorder that is associated with spinal abnormalities which are varied and may include scoliosis, neurofibromas, meningoceles, and vertebral defects. Skeletal abnormalities occur in more than one third of individuals with the disorder. These abnormalities are unpredictable and the pathogenesis, natural history, and clinical outcome remain relatively unclear. The primary objective of this study is to determine the incidence and clinical history of NF1-related spinal abnormalities in children with NF1, over a 3-year period. In the study, researchers will enroll children between ages 6 and 9 years who have been diagnosed with NF1 to look at changes in the spine. Participants in the study will be followed yearly for a total of 4 evaluations. Evaluations may include bone scans, spinal x-rays, magnetic resonance imaging (MRI), computed tomography (CT) scans, and urine samples. Information gained from this study may lead to a better understanding of the causes of bone disease in NF1, and improved treatment.

Conditions

Eligibility

Locations (1)

Outcomes