Clinical trial NCT03820778: Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1
Official title: Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden
Study type: INTERVENTIONAL
Overall status: ACTIVE_NOT_RECRUITING
Phase: NA
Conditions: Neurofibromatosis 1
Neurofibroma
Atypical Neurofibroma
Atypical Neurofibromatosis
Plexiform Neurofibroma
Von Recklinghausen Disease
Lead sponsor: Children's National Research Institute
Sponsor class: OTHER
First posted: 2019-01-29
Enrollment: 10
Sex: ALL
Minimum age (years): 8
Maximum age (years): 30
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.

Eligibility criteria: 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

Primary outcomes:
measure: To determine if WBMRI can be used to identify ANF in NF1 patients with high tumor burden.
timeFrame: 2-3 years
Secondary outcomes:
measure: Determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI
timeFrame: 2-3 years
Other outcomes:
measure: Determine if the cfDNA levels correlate with presence of ANF.
timeFrame: 3-4 years
Locations:
city: Washington
country: United States
facility: Children's National Health System
state: District of Columbia
Study officials:
affiliation: Children's National Health System
name: Miriam Bornhorst, MD
role: PRINCIPAL_INVESTIGATOR
References:
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