Genetic Evaluation of NF1 and Scoliosis Patients

Plain-language summary

This study evaluates genetic features related to the NF1 gene in people with neurofibromatosis type 1 and scoliosis, using a cheek swab sample. It enrolled patients aged 8-65 with a diagnosis of NF1 who had spinal fusion for scoliosis. It was carried out as a study without an assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Minnesota

Intervention

Cheek swab

Start date

8/1/2010

Estimated completion

8/1/2015

Countries

United States

Related genes

Locations

• Minneapolis, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.