Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

Study Overview
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Brief Summary
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This study is being conducted to determine if Whole Body MRI (WBMRI) can be used to identify Atypical Neurofibromas (ANF) in Neurofibromatosis Type 1 (NF1) patients with high tumor burden. Each enrolled participant will have two (2) WBMRIs without sedation during the study period. Eligible participants must be Male or Female between the ages of 8-30 with diagnosed NF1; with one or more PN greater than 3cm in diameter and willing to comply with study procedures.

Detailed Description
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This is a study to determine the feasibility of using Whole Body MRI (WBMRI) to detect Atypical Plexiform Neurofibromas (ANF) among Neurofibromatosis Type 1 (NF1) patients who are at highest risk for developing these tumors. In order to do this, the investigators will prospectively obtain WBMRI scans on patients with high plexiform tumor burden (which investigators will define as >=1 plexiform neurofibroma (PN) that is >3cm in diameter on MRI) at the same time as their regularly scheduled MRI to allow for radiographic comparison of the identified PNs. In this study, the investigators will plan to establish a method that effectively characterizes PNs in terms of their volume, radiographic appearance on WBMRI and association with clinical characteristics. As an exploratory aim, the investigators plan to collect blood samples from each patient at the same time as the MRI to determine the feasibility of isolating cfDNA (circulating free DNA) from plasma of patients with high plexiform tumor burden.

Official Title
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Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden

Conditions
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Neurofibromatosis 1, Neurofibroma, Atypical Neurofibroma, Atypical Neurofibromatosis, Plexiform Neurofibroma, Von Recklinghausen Disease

Intervention / Treatment
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* Diagnostic Test: Whole Body MRI


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Males or females between 8-30 years of age Confirmed diagnosis of NF1 Stated willingness to comply with all study procedures and availability for the duration of the study Prior MRI documentation confirming >=1 PN that is >3cm in diameter Exclusion Criteria: Unable to undergo MRI without sedation Presence of metal or other devices that are contraindicated for MRI

Ages Eligible for Study
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Minimum Age: 8 Years
Maximum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Study Arm<br>Whole Body MRI along with standard of care regional MRI and blood draw at enrollment followed by Whole Body MRI along with standard of care regional MRI and blood draw after 4-6 months. | Diagnostic Test: Whole Body MRI<br>* WBMRI with axial and coronal STIR (short inversion time inversion recovery) images + DWI (diffuse weighted imaging) will be performed and compared to regional MRI to assess value of this diagnostic test for the identification of suspicious looking lesions (i.e. diffuse nodular lesions or atypical plexiform neurofibroma)<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| To determine if WBMRI can be used to identify ANF in NF1 patients with high tumor burden. | Number of NF1 participants with high tumor burden who have ANF on WBMRI | 2-3 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI | Number of patients with high PN tumor burden who have clinical symptoms | 2-3 years |