Clinical trial · Observational
Genetic Evaluation of NF1 and Scoliosis Patients
Genetic Evaluation for the Scoliosis Gene(s) in Patients With Neurofibromatosis 1 and Scoliosis
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (2)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Neurofibromatosis 1 | — | UNRESOLVED | — |
| Scoliosis | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Cheek swab | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- Dystrophic Scolisis and NF1
- description
- Patients with NF1 diagnosed with dystrophic scoliosis that have been clinically treated will be asked for a cheek swab for genetic testing
- interventionNames
- Other: Cheek swab
- label
- Non-dystrophic scoliosis and NF1
- description
- NF1 patients with non-dystrophic scoliosis that have been treated clinically. will be asked for a cheek swab for genetic testing
- interventionNames
- Other: Cheek swab
Primary outcomes (1)
- measure
- SCOLISCORE
- timeFrame
- 1 month after sample submission
- description
- 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.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Years
- Maximum age
- 65 Years
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available