Spinal Abnormalities in Neurofibromatos… | Clinical Trial

Key information

Conditions

Neurofibromatosis Type 1 Bone Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Musculoskeletal Diseases Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibromatoses Neurofibromatosis 1 Neuromuscular Diseases Peripheral Nervous System Diseases Scoliosis Spinal Curvatures Spinal Diseases

Age range

6 year–9 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University Health Care, 50 North Medical Drive

Salt Lake City, Utah, 84132, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.)

Treatment and study plan

Primary outcomes

Scoliosis and it's progression

Time frame: 4 years

Secondary outcomes

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

Sponsors and collaborators

Lead sponsor

University of Utah

Other

Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Registry information

Acronym: Spine

Important dates

Study start: 2006
Primary completion: 2012
Study completion: 2012
First posted: Feb 13, 2009
Registry last updated: May 3, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed