Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

Children's National

Status: Active, not recruiting

Conditions: Neurofibroma; Neurofibromatosis 1; Atypical Neurofibroma; Atypical Neurofibromatosis; Von Recklinghausen Disease; Plexiform Neurofibroma

Treatments: Diagnostic Test: Whole Body MRI

Study type: Interventional

Funder types: Other

Identifiers

NCT03820778

Pro00010431

Details and patient eligibility

About

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.

Full 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.

Enrollment: 10 patients

Sex: All

Ages: 8 to 30 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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10 participants in 1 patient group

Study Arm

Experimental group

Description:

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.

Treatment:

Diagnostic Test: Whole Body MRI