Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1

NCT03820778 | Active Not Recruiting FDA Device

• 1 other identifier: Pro00010431
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• To determine if WBMRI can be used to identify ANF in NF1 patients with high tumor burden.

  Number of NF1 participants with high tumor burden who have ANF on WBMRI

  2-3 years

Secondary Outcomes (1)

• Determine if clinical signs and symptoms correlate with tumor burden and/or the presence of ANF on WBMRI

  2-3 years

Other Outcomes (1)

• Determine if the cfDNA levels correlate with presence of ANF.

  3-4 years

Study Arms (1)

Study Arm

EXPERIMENTAL

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.

Diagnostic Test: Whole Body MRI

Interventions

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)

Study Arm

Eligibility Criteria

• Age: 8 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• Children's National Research Institute: lead

Study Sites (1)

Children's National Health System

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

Location

Related Publications (10)

• 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.

  PMID: 23035791 BACKGROUND

• 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.

  PMID: 28592921 BACKGROUND

• 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.

  PMID: 29409029 BACKGROUND

• 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.

  PMID: 21987445 BACKGROUND

• 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.

  PMID: 18559970 BACKGROUND

• 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.

  PMID: 29416824 BACKGROUND

• 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.

  PMID: 22558206 BACKGROUND

• 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.

  PMID: 27527647 BACKGROUND

• 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.

  PMID: 19244040 BACKGROUND

• 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.

  PMID: 20489098 BACKGROUND

MeSH Terms

Conditions

Neurofibromatosis 1; Neurofibroma; Neurofibromatosis, type 4, of Riccardi; Neurofibroma, Plexiform

Condition Hierarchy (Ancestors)

Neurofibromatoses; Nerve Sheath Neoplasms; Neoplasms, Nerve Tissue; Neoplasms by Histologic Type; Neoplasms; Neoplastic Syndromes, Hereditary; Neurocutaneous Syndromes; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Peripheral Nervous System Neoplasms; Nervous System Neoplasms

Study Officials

• Miriam Bornhorst, MD

  Children's National Research Institute

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor Division of Oncology and Center for Genetics Medicine

Study Record Dates

• First Submitted: January 4, 2019
• First Posted: January 29, 2019
• Study Start: July 12, 2018
• Primary Completion: August 1, 2020
• Study Completion: August 1, 2022
• Last Updated: March 2, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)