Genetic Evaluation of NF1 and Scoliosis Patients

NCT01776125 | Completed

• 1 other identifier: 0804M30543
• Study Type: observational
• Target: 59
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Neurofibromatosis 1; Scoliosis

Keywords

Neurofibromatosis Type One; Scoliosis

Outcome Measures

Primary Outcomes (1)

• SCOLISCORE

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

  1 month after sample submission

Study Arms (2)

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

Other: Cheek swab

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

Other: Cheek swab

Interventions

Cheek swab OTHER

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.

Dystrophic Scolisis and NF1; Non-dystrophic scoliosis and NF1

Eligibility Criteria

• Age: 6 Years - 65 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Minnesota: lead
• Children Hospital Cincinnati OH: collaborator
• Texas Scottish Rite Hospital for Children: collaborator
• Norton Leatherman Spine Center: collaborator
• Mayo Clinic: collaborator
• University of Utah: collaborator
• Columbia University: collaborator

Study Sites (1)

University of Minnesota

Minneapolis, Minnesota, 55454, United States

Location

Biospecimen

Retention: NONE RETAINED

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.

MeSH Terms

Conditions

Neurofibromatosis 1; Scoliosis

Condition Hierarchy (Ancestors)

Neurofibromatoses; 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; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Spinal Curvatures; Spinal Diseases; Bone Diseases; Musculoskeletal Diseases

Study Officials

• David W Polly, MD

  University of Minnesota, Orthopaedic Surgery

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 13, 2012
• First Posted: January 25, 2013
• Study Start: August 1, 2010
• Primary Completion: August 1, 2015
• Study Completion: August 1, 2015
• Last Updated: November 1, 2019

Record last verified: 2019-10

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)