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

April 30, 2018 updated by: David Viskochil, University of Utah
The purpose of this study is to determine the incidence and clinical history of neurofibromatosis type 1-related spinal abnormalities.

Study Overview

Status

Completed

Conditions

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

Enrollment (Actual)

112

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Utah
      • Salt Lake City, Utah, United States, 84132
        • University Health Care, 50 North Medical Drive

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

6 years to 9 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

The cohort will be recruited from a primary care clinic.

Description

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.)

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Neurofibromatosis Type 1
Children with Neurofibromatosis Type 1

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Scoliosis and it's progression
Time Frame: 4 years
4 years

Secondary Outcome Measures

Outcome Measure
Time Frame
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
4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Utah

Collaborators

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 1, 2006

Primary Completion (Actual)

December 1, 2012

Study Completion (Actual)

December 1, 2012

Study Registration Dates

First Submitted

February 12, 2009

First Submitted That Met QC Criteria

February 12, 2009

First Posted (Estimate)

February 13, 2009

Study Record Updates

Last Update Posted (Actual)

May 3, 2018

Last Update Submitted That Met QC Criteria

April 30, 2018

Last Verified

April 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 15464
  • R01NS050509 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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