NCT03820778

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

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

• Status: Active Not Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 10 (actual)
• Sponsor: Children's National Research Institute · Academic / Other
• Sex: All
• Age: 8 Years – 30 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Neurofibromatosis 1
• Neurofibroma
• Atypical Neurofibroma
• Atypical Neurofibromatosis
• Plexiform Neurofibroma
• Von Recklinghausen Disease

Interventions

Type	Name	Description
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)

Timeline

• Start date: 2018-07-12
• Primary completion: 2020-08-01
• Completion: 2022-08-01
• First posted: 2019-01-29
• Last updated: 2021-03-02

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated device study