Trial record 6 of 37 for:    Open Studies | "Neurofibromatosis 1"

Genetic Evaluation of NF1 and Scoliosis Patients

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2013 by University of Minnesota - Clinical and Translational Science Institute
Sponsor:
Collaborators:
Children Hospital Cincinnati OH
Texas Scottish Rite Hospital for Children
Norton Leatherman Spine Center
Mayo Clinic
University of Utah
Columbia University
Information provided by (Responsible Party):
University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier:
NCT01776125
First received: November 13, 2012
Last updated: January 22, 2013
Last verified: January 2013
  Purpose

Neurofibromatosis (NF) is a common genetic disorder that cause tumors to grow along various types of nerves and, in addition, can affect the development of bones and skin. It occurs in 1:4000 persons. NF has been classified into three distinct types: NF1, NF2 and Schwannomatosis. NF1 is the focus of this study.

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.


Condition Intervention
Neurofibromatosis 1
Scoliosis
Genetic: Swab

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis

Resource links provided by NLM:


Further study details as provided by University of Minnesota - Clinical and Translational Science Institute:

Primary Outcome Measures:
  • SCOLISCORE [ Time Frame: 1 month after sample submission ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

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 Axial Biotech Inc. It will include a self-addressed stamped envelope to mail the swab back to Axial Biotech Inc. Participatns 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.


Estimated Enrollment: 100
Study Start Date: August 2010
Estimated Study Completion Date: August 2013
Estimated Primary Completion Date: August 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Dystrophic Scolisis and NF1
Patients with NF1 diagnosed with dystropyhc scolisis that have been clincally treated
Genetic: 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 Axial Biotech Inc. It will include a self-addressed stamped envelope to mail the swab back to Axial Biotech Inc. Participatns 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.
NF1 non-dystrophyc scoliosis
NF1 patients with non-dystrophic scoliosis that have been treated clinically.
Genetic: 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 Axial Biotech Inc. It will include a self-addressed stamped envelope to mail the swab back to Axial Biotech Inc. Participatns 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.

Detailed Description:

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 deformities.

  Eligibility

Ages Eligible for Study:   8 Years to 65 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Candidates will be identified by spine surgeons who are members of the Spinal Deformity Study Group. Participants need to be age 8 to 65 years old. These will be individuals who have been clinically diagnosed with NF 1 and have undergone spinal fusion for scoliosis (either dystrophic or non-dystrophic). The participating physicians will explain the research to qualifying patients or their guardians. We have added a flyer for the participating physicians to hand out to their patients. The patient/guardian may then take this flyer home and contact study personnel directly, thus removing the participating physician and/or his staff from the process.

Criteria

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 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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01776125

Contacts
Contact: Charles G Ledonio, MD 612-273-8035 ledon001@umn.edu
Contact: Ivana Ninkovic, MPH, MS 612-273-8082 nink0002@umn.edu

Locations
United States, Minnesota
University of Minnesota Recruiting
Minneapolis, Minnesota, United States, 55454
Contact: Charles G Ledonio, MD    612-273-8035    ledon001@umn.edu   
Contact: Ivana Ninkovic, MPH, MS    612-273-8082    nink0002@umn.edu   
Sub-Investigator: Charles G Ledonio, MD         
Sub-Investigator: Noelle A Larson, MD         
Sub-Investigator: James W Ogilvie, MD         
Principal Investigator: David W Polly, MD         
Sponsors and Collaborators
University of Minnesota - Clinical and Translational Science Institute
Children Hospital Cincinnati OH
Texas Scottish Rite Hospital for Children
Norton Leatherman Spine Center
Mayo Clinic
University of Utah
Columbia University
Investigators
Principal Investigator: David W Polly, MD University of Minnesota, Ortohpaedic Surgery
  More Information

No publications provided

Responsible Party: University of Minnesota - Clinical and Translational Science Institute
ClinicalTrials.gov Identifier: NCT01776125     History of Changes
Other Study ID Numbers: NF1 DOD 0804M30543
Study First Received: November 13, 2012
Last Updated: January 22, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by University of Minnesota - Clinical and Translational Science Institute:
Neurofibromatosis Type One
Scoliosis

Additional relevant MeSH terms:
Neurofibromatoses
Neurofibromatosis 1
Osteitis Fibrosa Cystica
Scoliosis
Neurofibroma
Nerve Sheath Neoplasms
Neoplasms, Nerve Tissue
Neoplasms by Histologic Type
Neoplasms
Neoplastic Syndromes, Hereditary
Neurocutaneous Syndromes
Nervous System Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Peripheral Nervous System Diseases
Neuromuscular Diseases
Bone Diseases, Endocrine
Bone Diseases
Musculoskeletal Diseases
Spinal Curvatures
Spinal Diseases

ClinicalTrials.gov processed this record on July 22, 2014