Study Results
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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COMPLETED
59 participants
OBSERVATIONAL
2010-08-31
2015-08-31
Brief Summary
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NF1 is an extremely variable disorder which ranges from extremely mild cases in which the only signs of the disorder in adulthood may be multiple café-au-lait spots and a few dermal neurofibromas, to more severe cases like disfigurement, scoliosis and learning disabilities. Scoliosis (abnormal curvature of the spine) is perhaps the most common bone deformity in NF1 which usually appears in early childhood. There are two types: dystrophic and non-dystrophic scoliosis. Dystrophic scoliosis is usually associated with other bone deformities which are seen on x-ray and carries a poorer prognosis than non dystrophic scoliosis. There is evidence that genes other than the NF1 gene are responsible for the variable severity of cases. Recent studies have identified genetic markers for another condition called adolescent idiopathic scoliosis (scoliosis which presents in adolescent age group with no known cause). We believe that the same genetic markers may also be present in NF1 patients with scoliosis.
Our objective is primarily to determine if the same genetic markers discovered in adolescent idiopathic scoliosis are also present in NF1 patients with scoliosis.
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Detailed Description
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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 deformities.
Conditions
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Study Design
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COHORT
RETROSPECTIVE
Study Groups
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Dystrophic Scolisis and NF1
Patients with NF1 diagnosed with dystrophic scoliosis that have been clinically treated will be asked for a cheek swab for genetic testing
Cheek swab
Participants will be asked to give us a swab (a long Q-tip) of the inside of your cheek (inside your mouth) for genetic testing. This should take no more than 10 seconds. It will not hurt. The swab kit will be provided by Affiliated Genetics. It will include a self-addressed stamped envelope to mail the swab back to Affiliated Genetics. Participants existing x-rays will be reviewed as part of this study as well. We will review participant's medical record to look at what treatments have been executed during the course of participation. Once the individual agrees to participate in this project their private health information will be sent to Axial Biotech Inc., the company that will be doing the genetic testing.
Non-dystrophic scoliosis and NF1
NF1 patients with non-dystrophic scoliosis that have been treated clinically. will be asked for a cheek swab for genetic testing
Cheek swab
Participants will be asked to give us a swab (a long Q-tip) of the inside of your cheek (inside your mouth) for genetic testing. This should take no more than 10 seconds. It will not hurt. The swab kit will be provided by Affiliated Genetics. It will include a self-addressed stamped envelope to mail the swab back to Affiliated Genetics. Participants existing x-rays will be reviewed as part of this study as well. We will review participant's medical record to look at what treatments have been executed during the course of participation. Once the individual agrees to participate in this project their private health information will be sent to Axial Biotech Inc., the company that will be doing the genetic testing.
Interventions
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Cheek swab
Participants will be asked to give us a swab (a long Q-tip) of the inside of your cheek (inside your mouth) for genetic testing. This should take no more than 10 seconds. It will not hurt. The swab kit will be provided by Affiliated Genetics. It will include a self-addressed stamped envelope to mail the swab back to Affiliated Genetics. Participants existing x-rays will be reviewed as part of this study as well. We will review participant's medical record to look at what treatments have been executed during the course of participation. Once the individual agrees to participate in this project their private health information will be sent to Axial Biotech Inc., the company that will be doing the genetic testing.
Eligibility Criteria
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Inclusion Criteria
* Proper preoperative radiographs of the spine
* Spinal fusion done for scoliosis
* Age 8 to 65 years old
Exclusion Criteria
* Patients who are unavailable to donate a swab sample for genetic testing will be excluded.
Enrollment Criteria:
* In general participants of this study should be NF1 patients with scoliosis who have either reached skeletal maturity or required surgical treatment.
6 Years
65 Years
ALL
No
Sponsors
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Children Hospital Cincinnati OH
UNKNOWN
Texas Scottish Rite Hospital for Children
OTHER
Norton Leatherman Spine Center
OTHER
Mayo Clinic
OTHER
University of Utah
OTHER
Columbia University
OTHER
University of Minnesota
OTHER
Responsible Party
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Principal Investigators
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David W Polly, MD
Role: PRINCIPAL_INVESTIGATOR
University of Minnesota, Orthopaedic Surgery
Locations
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University of Minnesota
Minneapolis, Minnesota, United States
Countries
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Other Identifiers
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0804M30543
Identifier Type: -
Identifier Source: org_study_id
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