Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1
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|ClinicalTrials.gov Identifier: NCT03820778|
Recruitment Status : Active, not recruiting
First Posted : January 29, 2019
Last Update Posted : March 2, 2021
|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|
|Actual Primary Completion Date :||August 1, 2020|
|Estimated Study Completion Date :||August 1, 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 ]Number of NF1 participants with high tumor burden who have ANF on WBMRI
- Determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI [ Time Frame: 2-3 years ]Number of patients with high PN tumor burden who have clinical symptoms
- Determine if the cfDNA levels correlate with presence of ANF. [ Time Frame: 3-4 years ]Level of cfDNA in plasma of participants with ANF compared to participants without ANF
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|