Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Neurofibromatosis Type 1 Clinical Trial

— Spine  

Official title:

Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00844129
• Other study ID #: 15464
• Secondary ID: R01NS050509
• Status: Completed
• Start date: December 2006
• Est. completion date: December 2012

Study information

• Verified date: April 2018
• Source: University of Utah
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 112
• Est. completion date: December 2012
• Est. primary completion date: December 2012
• Accepts healthy volunteers: No
• Gender: All
• Age group: 6 Years to 9 Years

Eligibility

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.)

Related Conditions & MeSH terms

• Congenital Abnormalities
• Neurofibroma
• Neurofibromatoses
• Neurofibromatosis 1
• Neurofibromatosis Type 1

Locations

Country	Name	City	State
United States	University Health Care, 50 North Medical Drive	Salt Lake City	Utah

Sponsors (2)

Lead Sponsor	Collaborator
University of Utah	National Institute of Neurological Disorders and Stroke (NINDS)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Scoliosis and it's progression		4 years
Secondary	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).		4 years