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

Shriners Hospitals for Children

Status: Completed

Conditions: Neurofibromatosis Type 1

Study type: Observational

Funder types: Other

Identifiers

NCT00667836

IRB_00023261

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 300 patients

Sex: All

Ages: 3 to 18 years old

Volunteers: No Healthy Volunteers

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