Clinical trial · Observational
Multi-parametric Biomarker Development to Predict Malignant Conversion in Patients With Neurofibromatosis Type 1
- 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)
The goal of this prospective observational study is to learn about the utility of imaging and clinical features in patients with Neurofibromatosis type 1 categorized as high risk for the development of malignant peripheral nerve sheath tumors. The main objectives are: * To evaluate the prevalence, multi-parametric imaging features of distinct nodular lesions ("DNLs") and natural history in people with NF1 with clinical and genetic features deemed "high-risk" for malignancy. * To assess the relationship between individual clinical, genetic and imaging factors that have been suggested to be risk factors for malignant peripheral nerve sheath tumors (MPNST) and the confirmation of atypical neurofibromas (aNF)/ atypical neurofibromatous neoplasm of unknown biologic potential (ANNUBP) or MPNST on pathology. In this research study, the participants will be asked to undergo whole body MRI, provide blood sample and clinical evaluation annually.
Conditions
Conditions (3)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Atypical Neurofibroma | Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential | ALIAS | 0.90 |
| Malignant Peripheral Nerve Sheath Tumor (MPNST) of Soft Tissue (Diagnosis) | — | UNRESOLVED | — |
| Neurofibromatosis 1 | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Whole Body Magnetic Resonance Imaging | Diagnostic Test | — | UNRESOLVED |
Design
Arms and outcomes
Arms (0)
[]Primary outcomes (1)
- measure
- Prevalence of distinct nodular lesions in people with NF1 associated pNF
- timeFrame
- 4 years
- description
- Prevalence of distinct nodular lesions in people with NF1 associated pNF and clinical or genetic factors that are hypothesized to be "high risk" for MPNST
Secondary outcomes (4)
- measure
- Imaging features of distinct nodular lesions
- timeFrame
- 4 years
- description
- The imaging characteristics of DNL over time
- measure
- Incidence of new distinct nodular lesions
- timeFrame
- 4 years
- description
- Incidence of new DNLs over time (in both people who do and do not have DNL on initial imaging)
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 6 Years
Show eligibility criteria text
Inclusion Criteria:
Inclusion criteria are person (age \> 6 years) with clinical diagnosis of NF1, ability to undergo whole body MRI without intravenous contrast material considered "high-risk" for MPNST.
The term "high risk" is defined as:
* high pNF burden defined as 1 pNF \> 3 cm or \> 1 pNF
* diagnosis of whole-gene deletion ("microdeletion") of the NF1 gene on genetic testing
* prior history of atypical or malignant PNST
* family or personal history of MPNST or atypical PNST
* prior radiation treatment
Exclusion Criteria:
* Pregnancy
* inability to tolerate MRI or 18F-FDG-PET/CT imaging without anesthesia
* ongoing NF1-related intervention (including systemic steroids) or therapy that may alter the anatomic, metabolic or functional MRI appearance of the PNSTs.References
Publications (0)
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