Spinal Abnormalities in Neurofibromatosis Type 1 (NF1) (Spine)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00844129
Recruitment Status : Completed
First Posted : February 13, 2009
Last Update Posted : May 3, 2018
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
David Viskochil, University of Utah

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

Condition or disease
Neurofibromatosis Type 1

Detailed Description:

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
Observational Model: Cohort
Time Perspective: Prospective
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

Primary Outcome Measures :
  1. Scoliosis and it's progression [ Time Frame: 4 years ]

Secondary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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Ages Eligible for Study:   6 Years to 9 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
The cohort will be recruited from a primary care clinic.

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.)

Information from the National Library of Medicine

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 identifier (NCT number): NCT00844129

United States, Utah
University Health Care, 50 North Medical Drive
Salt Lake City, Utah, United States, 84132
Sponsors and Collaborators
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

Responsible Party: David Viskochil, Professor, University of Utah Identifier: NCT00844129     History of Changes
Other Study ID Numbers: 15464
R01NS050509 ( U.S. NIH Grant/Contract )
First Posted: February 13, 2009    Key Record Dates
Last Update Posted: May 3, 2018
Last Verified: April 2018

Keywords provided by David Viskochil, University of Utah:
neurofibromatosis type 1
spinal abnormalities

Additional relevant MeSH terms:
Congenital Abnormalities
Neurofibromatosis 1
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Peripheral Nervous System Neoplasms
Nervous System Neoplasms