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

This study has been completed.
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of Utah
ClinicalTrials.gov Identifier:
First received: February 12, 2009
Last updated: January 17, 2014
Last verified: January 2014
The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.

Neurofibromatosis Type 1

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Resource links provided by NLM:

Further study details as provided by University of Utah:

Primary Outcome Measures:
  • Scoliosis and it's progression [ Time Frame: 4 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA

Enrollment: 112
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

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.


Ages Eligible for Study:   6 Years to 9 Years
Genders Eligible for Study:   Both
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.)
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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
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
  More Information

Responsible Party: University of Utah
ClinicalTrials.gov Identifier: NCT00844129     History of Changes
Other Study ID Numbers: 15464  R01NS050509 
Study First Received: February 12, 2009
Last Updated: January 17, 2014
Health Authority: United States: Federal Government

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

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

ClinicalTrials.gov processed this record on May 26, 2016