Multi-center Project: Spinal Abnormalities in Neurofibromatosis Type1 (NF1) Patients
Condition: Neurofibromatosis Type 1
MeSH terms: Neurofibromatoses; Neurofibromatosis 1; Neurofibroma
Study type: Observational

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.
    

Detailed 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.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        All NF1 patients
      
Keywords: Neurofibromatosis Type 1; NF1; Spinal Anomalies