Spinal Abnormalities in Neurofibromatosis Type 1 (NF1)

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00844129

Acronym

Spine

Enrollment

112

Registered

2009-02-13

Start date

2006-12-31

Completion date

2012-12-31

Last updated

2018-05-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Neurofibromatosis Type 1

Keywords

neurofibromatosis type 1, spinal abnormalities, scoliosis

Brief summary

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

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Years to 9 Years

Healthy volunteers

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.)

Design outcomes

Primary

Measure	Time frame
Scoliosis and it's progression	4 years

Secondary

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).	4 years

Countries

United States

Outcome results