Clinical Trial: Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

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

Detailed Summary:

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.

Sponsor: University of Utah

Current Primary Outcome: Scoliosis and it's progression [ Time Frame: 4 years ]

Original Primary Outcome: Same as current

Current Secondary Outcome: 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 ]

Original Secondary Outcome: Same as current

Information By: University of Utah

Dates:
Date Received: February 12, 2009
Date Started: December 2006
Date Completion:
Last Updated: January 17, 2014
Last Verified: January 2014