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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
  Purpose

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


Condition
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:

U.S. FDA Resources

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

Urine


Estimated Enrollment: 120
Study Start Date: December 2006
Estimated Study Completion Date: March 2013
Estimated Primary Completion Date: September 2012 (Final data collection date for primary outcome measure)
Groups/Cohorts
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.

  Eligibility

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.

Criteria

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00844129

Locations
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)
Investigators
Principal Investigator: David Viskochil, MD, PhD Division of Medical Genetics, Department of Pediatrics, University of Utah
  More Information

No publications provided

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: November 23, 2011
Health Authority: United States: Federal Government

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

Additional relevant MeSH terms:
Neurofibromatosis 1
Neurofibromatoses
Congenital Abnormalities
Osteitis Fibrosa Cystica
Neurofibroma
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
 Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Peripheral Nervous System Diseases
Neuromuscular Diseases
Genetic Diseases, Inborn
Bone Diseases, Endocrine
Bone Diseases
Musculoskeletal Diseases

ClinicalTrials.gov processed this record on May 21, 2013