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Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis

8 Years
65 Years
Open (Enrolling)
Neurofibromatosis 1, Scoliosis

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Trial Information

Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis

NF 1 patients with scoliosis can present as either non dystrophic or dystrophic scoliosis.
Non dystrophic scoliosis behaves and evolves similarly to that of AIS patients. Therefore,
we hypothesize that Neurofibromatosis type 1 patients with non-dystrophic scoliosis have a
similar curve progression risk profile markers as patients with Adolescent Idiopathic
Scoliosis. Dystrophic scoliosis patients will not have the same curve progression risk
profile as AIS. The long range goal of this study is to possibly develop a genetic test in
NF1 patients with scoliosis that is predictive of dystrophic or non-dystrophic type. The
short term goal for the study is to see if the non-dystrophic curves have the same
single-nucelotide polymorphisms (SNPs') as in AIS and if these SNPs are prognostic.

One of the goals of this study is to develop and validate a grading scheme to classify
dystrophic changes in patients with NF 1 scoliosis. Radiographic characteristics of
dystrophic deformity described by Crawford and Durrani et. al. will distinguish dystrophic
scoliosis from non-dystrophic scoliosis. In addition, we will be performing genetic testing
on patients with NF 1 who have had clinical treatment for scoliosis. Although the NF1 gene
has been identified no specific genetic markers have been identified in NF1 patients with
scoliosis. Genetic evaluation on a known group of NF1 patients with scoliosis will allow us
to gain insight as to which phenotypes of NF1 patients would possibly develop spine

Inclusion Criteria:

- Diagnosis of Neurofibromatosis type 1 (NIH criteria)[24]

- Proper preoperative radiographs of the spine

- Spinal fusion done for scoliosis

- Age 8 to 65 years old

Exclusion Criteria:

- Paraspinal tumors causing scoliosis

- Patients who are unavailable to donate a swab sample for genetic testing will be

Enrollment Criteria:

- In general participants of this study should be NF1 patients with scoliosis who have
either reached skeletal maturity or required surgical treatment.

Type of Study:


Study Design:

Observational Model: Cohort, Time Perspective: Retrospective

Outcome Measure:


Outcome Description:

The SCOLISCORE Test is the first and only genetic test proven to give physicians and parents insight into the possible progression of child's Adolescent Idiopathic Scoliosis (AIS), thereby reducing the uncertainty of AIS progression.

Outcome Time Frame:

1 month after sample submission

Safety Issue:


Principal Investigator

David W Polly, MD

Investigator Role:

Principal Investigator

Investigator Affiliation:

University of Minnesota, Ortohpaedic Surgery


United States: Institutional Review Board

Study ID:

NF1 DOD 0804M30543



Start Date:

August 2010

Completion Date:

August 2013

Related Keywords:

  • Neurofibromatosis 1
  • Scoliosis
  • Neurofibromatosis Type One
  • Scoliosis
  • Neurofibromatoses
  • Neurofibromatosis 1
  • Osteitis Fibrosa Cystica
  • Scoliosis



University of Minnesota Minneapolis, Minnesota  55455