Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

February 26, 2021 updated by: Miriam Bornhorst, Children's National Research Institute

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

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

Detailed Description

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

Enrollment (Actual)

10

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • District of Columbia
      • Washington, District of Columbia, United States, 20010
        • Children's National Health System

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

4 years to 26 years (Child, Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

Inclusion Criteria:

  1. Males or females between 8-30 years of age
  2. Confirmed diagnosis of NF1
  3. Stated willingness to comply with all study procedures and availability for the duration of the study
  4. Prior MRI documentation confirming >=1 PN that is >3cm in diameter

Exclusion Criteria:

  1. Unable to undergo MRI without sedation
  2. Presence of metal or other devices that are contraindicated for MRI

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
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)

What is the study measuring?

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.
Time Frame: 2-3 years
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
Time Frame: 2-3 years
Number of patients with high PN tumor burden who have clinical symptoms
2-3 years

Other Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
3-4 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's National Research Institute

Investigators

  • Principal Investigator: Miriam Bornhorst, MD, Children's National Health System

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 12, 2018

Primary Completion (Actual)

August 1, 2020

Study Completion (Anticipated)

August 1, 2022

Study Registration Dates

First Submitted

January 4, 2019

First Submitted That Met QC Criteria

January 25, 2019

First Posted (Actual)

January 29, 2019

Study Record Updates

Last Update Posted (Actual)

March 2, 2021

Last Update Submitted That Met QC Criteria

February 26, 2021

Last Verified

February 1, 2021

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Pro00010431

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

Yes

product manufactured in and exported from the U.S.

Yes

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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