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

NCT00667836 | Completed

• 1 other identifier: IRB_00023261
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neurofibromatosis Type 1

Keywords

Neurofibromatosis Type 1; NF1; Spinal Anomalies

Eligibility Criteria

• Age: 3 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Probability Sample

Study Population

All NF1 patients

You may qualify if:

• Meet NIH diagnostic criteria for NF1
• Age between 3 and 18 years

You may not qualify if:

• Do not have NF1

Sponsors & Collaborators

• Shriners Hospitals for Children: lead

Study Sites (1)

Shriners Hospitals for Children, Salt Lake City

Salt Lake City, Utah, 84103, United States

Location

MeSH Terms

Conditions

Neurofibromatosis 1

Condition Hierarchy (Ancestors)

Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Jacques D'Astous, M.D.

  Shriners Hospitals for Children

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: April 24, 2008
• First Posted: April 28, 2008
• Study Start: March 1, 2006
• Primary Completion: September 1, 2009
• Study Completion: September 1, 2009
• Last Updated: February 25, 2019

Record last verified: 2019-02

Locations

US (1)