Genetic Evaluation of NF1 and Scoliosis Patients
Completed
Conditions studied: Neurofibromatosis 1, Scoliosis
In brief
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.
Key facts
- Study ID
- NCT01776125
- Run by
- University of Minnesota
- People needed
- 59
- Starts
- 2010-08-01
- Expected to finish
- 2015-08-01
- Last updated by the study team
- 2019-11-01
Who can join
Age: 6 and older, up to 65. Sex: any. Healthy volunteers: not accepted.
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.
Where it is running
- University of Minnesota — Minneapolis, Minnesota, United States
Full record on ClinicalTrials.gov
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