Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients

We propose to establish a multi-center study to investigate the outcome of scoliosis and spinal abnormalities in patients with NF1.

The three specific aims of this study are:

Specific Aim 1 - To assess health status and health-related quality of life (HRQL) in children and adolescents with NF1 and scoliosis. We hypothesize that children and adolescents with NF1 and scoliosis will experience an additional burden of morbidity due to scoliosis and a downward trajectory of health status and HRQL over time.

Specific Aim 2 - To assess the natural history and short-term response to therapy in a cohort of children with NF1 and scoliosis prospectively diagnosed during the course of the four-year study period. We hypothesize that some NF1 patients with idiopathic scoliosis will modulate to the dystrophic form. We also hypothesize that NF1 patients with earlier presentation are more likely to have or modulate to the dystrophic form.

Specific Aim 3 - To assess biochemical markers of bone metabolism in NF1 individuals. We hypothesize that NF1 individuals will have statistically significant differences in biochemical markers of bone metabolism compared to controls. We also hypothesize that NF1 individuals with scoliosis will have differences in biochemical markers of bone metabolism compared to NF1 individuals without scoliosis.

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Key information

Conditions

Neurofibromatosis Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System 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

Age range

3 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Shriners Hospitals for Children, Salt Lake City

Salt Lake City, Utah, 84103, United States

About this study

The three specific aims of this study are:

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Meet NIH diagnostic criteria for NF1
Radiographic documentation of scoliosis will be necessary for inclusion as a "scoliosis case"
Age between 3 and 18 years

Exclusion criteria

Do not have NF1

Sponsors and collaborators

Lead sponsor

Shriners Hospitals for Children

Other

Registry information

Important dates

Study start: 2006
Primary completion: 2009
Study completion: 2009
First posted: Apr 28, 2008
Registry last updated: Feb 25, 2019

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

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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