Skip to main content
OpenTrials
Active, Not Recruiting

NCT Number: NCT03820778

Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Neurofibromatosis 1 Atypical Neurofibroma Atypical Neurofibromatosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Neoplasms Neoplasms by Histologic Type Neoplasms, Nerve Tissue Neoplastic Syndromes, Hereditary Nerve Sheath Neoplasms Nervous System Diseases Nervous System Neoplasms Neurocutaneous Syndromes Neurodegenerative Diseases Neurofibroma Neurofibroma, Plexiform Neurofibromatoses Neurofibromatosis, type 4, of Riccardi Neuromuscular Diseases Peripheral Nervous System Diseases Peripheral Nervous System Neoplasms Plexiform Neurofibroma Von Recklinghausen Disease

Age range

8 year–30 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Children's National Health System

Washington D.C., District of Columbia, 20010, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

Whole Body MRI

Diagnostic Test

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)

Primary outcomes

  1. 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

Secondary outcomes

  1. 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

Other outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

Children's National Research Institute

Other

Registry information

Official study title

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

Important dates

Study start
2018
Primary completion
2020
Study completion
2022
First posted
Jan 29, 2019
Registry last updated
Mar 2, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.