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Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of Utah
ClinicalTrials.gov Identifier:
NCT00844129
First received: February 12, 2009
Last updated: November 23, 2011
Last verified: November 2011
History of Changes

February 12, 2009
November 23, 2011
December 2006
September 2012   (final data collection date for primary outcome measure)
Scoliosis and it's progression [ Time Frame: 4 years ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00844129 on ClinicalTrials.gov Archive Site
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 ] [ Designated as safety issue: No ]
Same as current
Not Provided
Not Provided
 
Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)
Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

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.
Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples With DNA
Description:

Urine
Non-Probability Sample

The cohort will be recruited from a primary care clinic.
Neurofibromatosis Type 1
Not Provided
Neurofibromatosis Type 1
Children with Neurofibromatosis Type 1
Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
120
March 2013
September 2012   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Diagnosis of NF1
  • Age greater than 6 years at time of enrollment
  • Age less than 9 year and 1 day at time of enrollment
  • Tanner Stage not greater than 1

Exclusion Criteria:

  • Prior surgical repair of spine
  • Short-segment (4-6 vertebrae) curve with a Cobb angle of 45°or more
  • Hormone replacement therapy
  • Chronic steroid use
  • Tibial pseudarthrosis
  • Other chronic medical problems known to influence bone health (i.e. diabetes mellitus, cerebral palsy, etc.)
Both
6 Years to 9 Years
No
Contact information is only displayed when the study is recruiting subjects
United States
 
NCT00844129
15464, R01NS050509
No
University of Utah
University of Utah
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: David Viskochil, MD, PhD Division of Medical Genetics, Department of Pediatrics, University of Utah
University of Utah
November 2011

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP