Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)
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.
Observational Model: Cohort, Time Perspective: Prospective
Scoliosis and it's progression
David Viskochil, MD, PhD
Division of Medical Genetics, Department of Pediatrics, University of Utah
United States: Federal Government
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