Spinal Abnormalities in Neurofibromatosis Type 1 (NF1) (Spine)
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|ClinicalTrials.gov Identifier: NCT00844129|
Recruitment Status : Completed
First Posted : February 13, 2009
Last Update Posted : May 3, 2018
|Condition or disease|
|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.
|Study Type :||Observational|
|Actual Enrollment :||112 participants|
|Official Title:||Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)|
|Actual Study Start Date :||December 2006|
|Actual Primary Completion Date :||December 2012|
|Actual Study Completion Date :||December 2012|
Neurofibromatosis Type 1
Children with Neurofibromatosis Type 1
- 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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|