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

NCT ID: NCT00667836

Last Updated: 2019-02-25

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

300 participants

Study Classification

OBSERVATIONAL

Study Start Date

2006-03-31

Study Completion Date

2009-09-30

Brief Summary

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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.

Detailed Description

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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

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Neurofibromatosis Type 1

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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
Minimum Eligible Age

3 Years

Maximum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Shriners Hospitals for Children

OTHER

Sponsor Role lead

Responsible Party

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Jacques D'Astous

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Jacques D'Astous, M.D.

Role: PRINCIPAL_INVESTIGATOR

Shriners Hospitals for Children

Locations

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Shriners Hospitals for Children, Salt Lake City

Salt Lake City, Utah, United States

Site Status

Countries

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United States

Other Identifiers

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IRB_00023261

Identifier Type: -

Identifier Source: org_study_id

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