Spinal Abnormalities in Neurofibromatosis Type 1 (NF1) (Spine)
|Neurofibromatosis Type 1|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)|
- Scoliosis and it's progression [ Time Frame: 4 years ]
- Differences in other bone health variables as measured by thoracic MRIs, Dexa (xray measuring bone density), pQCT (a cross sectional picture of the tibia), urine analysis, and scoli series (xrays to look for scoliosis). [ Time Frame: 4 years ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||December 2006|
|Primary Completion Date:||September 2012 (Final data collection date for primary outcome measure)|
Neurofibromatosis Type 1
Children with Neurofibromatosis Type 1
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT00844129
|United States, Utah|
|University Health Care, 50 North Medical Drive|
|Salt Lake City, Utah, United States, 84132|
|Principal Investigator:||David Viskochil, MD, PhD||Division of Medical Genetics, Department of Pediatrics, University of Utah|