Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

NCT ID: NCT03820778

Last Updated: 2021-03-02

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Clinical Phase

NA

Total Enrollment

10 participants

Study Classification

INTERVENTIONAL

Study Start Date

2018-07-12

Study Completion Date

2022-08-01

Brief Summary

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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

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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

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

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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Study Arm

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.

Group Type EXPERIMENTAL

Whole Body MRI

Intervention Type 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)

Interventions

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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)

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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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
Minimum Eligible Age

8 Years

Maximum Eligible Age

30 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's National Research Institute

OTHER

Sponsor Role lead

Responsible Party

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Miriam Bornhorst

Assistant Professor Division of Oncology and Center for Genetics Medicine

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Miriam Bornhorst, MD

Role: PRINCIPAL_INVESTIGATOR

Children's National Research Institute

Locations

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Children's National Health System

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

Site Status

Countries

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United States

References

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Nguyen R, Dombi E, Widemann BC, Solomon J, Fuensterer C, Kluwe L, Friedman JM, Mautner VF. Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1. Orphanet J Rare Dis. 2012 Oct 4;7:75. doi: 10.1186/1750-1172-7-75.

Reference Type BACKGROUND
PMID: 23035791 (View on PubMed)

Kim A, Stewart DR, Reilly KM, Viskochil D, Miettinen MM, Widemann BC. Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies. Sarcoma. 2017;2017:7429697. doi: 10.1155/2017/7429697. Epub 2017 May 16.

Reference Type BACKGROUND
PMID: 28592921 (View on PubMed)

Higham CS, Dombi E, Rogiers A, Bhaumik S, Pans S, Connor SEJ, Miettinen M, Sciot R, Tirabosco R, Brems H, Baldwin A, Legius E, Widemann BC, Ferner RE. The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors. Neuro Oncol. 2018 May 18;20(6):818-825. doi: 10.1093/neuonc/noy013.

Reference Type BACKGROUND
PMID: 29409029 (View on PubMed)

Beert E, Brems H, Daniels B, De Wever I, Van Calenbergh F, Schoenaers J, Debiec-Rychter M, Gevaert O, De Raedt T, Van Den Bruel A, de Ravel T, Cichowski K, Kluwe L, Mautner V, Sciot R, Legius E. Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer. 2011 Dec;50(12):1021-32. doi: 10.1002/gcc.20921. Epub 2011 Aug 24.

Reference Type BACKGROUND
PMID: 21987445 (View on PubMed)

Mautner VF, Asuagbor FA, Dombi E, Funsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM. Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1. Neuro Oncol. 2008 Aug;10(4):593-8. doi: 10.1215/15228517-2008-011. Epub 2008 Jun 17.

Reference Type BACKGROUND
PMID: 18559970 (View on PubMed)

Dominguez-Vigil IG, Moreno-Martinez AK, Wang JY, Roehrl MHA, Barrera-Saldana HA. The dawn of the liquid biopsy in the fight against cancer. Oncotarget. 2017 Dec 8;9(2):2912-2922. doi: 10.18632/oncotarget.23131. eCollection 2018 Jan 5.

Reference Type BACKGROUND
PMID: 29416824 (View on PubMed)

Plotkin SR, Bredella MA, Cai W, Kassarjian A, Harris GJ, Esparza S, Merker VL, Munn LL, Muzikansky A, Askenazi M, Nguyen R, Wenzel R, Mautner VF. Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. PLoS One. 2012;7(4):e35711. doi: 10.1371/journal.pone.0035711. Epub 2012 Apr 27.

Reference Type BACKGROUND
PMID: 22558206 (View on PubMed)

Ahlawat S, Fayad LM, Khan MS, Bredella MA, Harris GJ, Evans DG, Farschtschi S, Jacobs MA, Chhabra A, Salamon JM, Wenzel R, Mautner VF, Dombi E, Cai W, Plotkin SR, Blakeley JO; Whole Body MRI Committee for the REiNS International Collaboration; REiNS International Collaboration Members 2016. Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis. Neurology. 2016 Aug 16;87(7 Suppl 1):S31-9. doi: 10.1212/WNL.0000000000002929.

Reference Type BACKGROUND
PMID: 27527647 (View on PubMed)

Cai W, Kassarjian A, Bredella MA, Harris GJ, Yoshida H, Mautner VF, Wenzel R, Plotkin SR. Tumor burden in patients with neurofibromatosis types 1 and 2 and schwannomatosis: determination on whole-body MR images. Radiology. 2009 Mar;250(3):665-73. doi: 10.1148/radiol.2503080700.

Reference Type BACKGROUND
PMID: 19244040 (View on PubMed)

Wasa J, Nishida Y, Tsukushi S, Shido Y, Sugiura H, Nakashima H, Ishiguro N. MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol. 2010 Jun;194(6):1568-74. doi: 10.2214/AJR.09.2724.

Reference Type BACKGROUND
PMID: 20489098 (View on PubMed)

Other Identifiers

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Pro00010431

Identifier Type: -

Identifier Source: org_study_id

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