Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

Not Applicable

Active, not recruiting

• Conditions: Neurofibromatosis 1; Atypical Neurofibromatosis; Von Recklinghausen Disease; Neurofibroma; Atypical Neurofibroma; Plexiform Neurofibroma
• Interventions: Diagnostic Test: Whole Body MRI

• Registration Number: NCT03820778
• Lead Sponsor: Children's National Research Institute

Brief Summary

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

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 Timeline

• Study Start: 2018-07-12
• Study First Submitted: 2019-01-04
• Study First Submitted QC: 2019-01-25
• Study First Posted: 2019-01-29
• Primary Completion: 2020-08-01
• Status Verified: 2021-02
• Last Update Submitted: 2021-02-26
• Last Update Posted: 2021-03-02
• Study Completion: 2022-08-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 10

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 & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Study Arm	Whole Body MRI	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.

Primary Outcome Measures

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

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Children's National Health System; 🇺🇸 Washington, District of Columbia, United States