Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1
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|ClinicalTrials.gov Identifier: NCT03820778|
Recruitment Status : Enrolling by invitation
First Posted : January 29, 2019
Last Update Posted : January 29, 2019
|Condition or disease||Intervention/treatment||Phase|
|Neurofibromatosis 1 Neurofibroma Atypical Neurofibroma Atypical Neurofibromatosis Plexiform Neurofibroma Von Recklinghausen Disease||Diagnostic Test: Whole Body MRI||Not Applicable|
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.
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||10 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden|
|Actual Study Start Date :||July 12, 2018|
|Estimated Primary Completion Date :||July 12, 2022|
|Estimated Study Completion Date :||July 12, 2022|
Experimental: Study Arm
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
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)
- To determine if WBMRI can be used to identify ANF in NF1 patients with high tumor burden. [ Time Frame: 2-3 years ]We will review results of the WBMRI compared to regional MRIs (done with contrast) to determine if the WBMRI can accurately detect Atypical Neurofibromas.
- Determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI [ Time Frame: 2-3 years ]Using patient data collected during their routine clinic evaluation, we will determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI
- Determine if the cfDNA levels correlate with presence of ANF. [ Time Frame: 3-4 years ]We will measure cfDNA levels in each participant, and determine if these levels correlate with tumor burden and/or the presence of ANFs.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03820778
|United States, District of Columbia|
|Children's National Health System|
|Washington, District of Columbia, United States, 20010|
|Principal Investigator:||Miriam Bornhorst, MD||Children's National Health System|