Genetic Evaluation of NF1 and Scoliosis Patients

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

Interventions

OTHER

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.

Sponsors & Collaborators

• Children Hospital Cincinnati OH

  collaborator UNKNOWN

• Texas Scottish Rite Hospital for Children

  collaborator OTHER

• Norton Leatherman Spine Center

  collaborator OTHER

• Mayo Clinic

  collaborator OTHER

• University of Utah

  collaborator OTHER

• Columbia University

  collaborator OTHER

• University of Minnesota

  lead OTHER

Principal Investigators

• David W Polly, MD · University of Minnesota, Orthopaedic Surgery

Eligibility

Min Age

6 Years

Max Age

65 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2010-08-31

Primary Completion

2015-08-31

Completion

2015-08-31

Countries

• United States

Study Locations