Neurofibromatosis Type 1 Tumor Early Detection Study

NCT ID: NCT06515860

Last Updated: 2026-01-09

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

RECRUITING

Total Enrollment

1000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-08-07

Study Completion Date

2030-07-31

Brief Summary

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The goal of this observational study is to determine if a liquid biopsy (i.e. blood test) is an effective clinical tool for monitoring the development of malignant peripheral nerve sheath tumor (MPNST) among adults (18 years and older) with Neurofibromatosis Type 1 (NF1), compared to the current standard of care. The main questions it aims to answer are:

How effective is liquid biopsy compared to the current standard of care (clinical surveillance and imaging) for early detection of MPNST development among people with NF1? Can liquid biopsy offer a cost-effective method for early detection of MPNST in people with NF1? Also, can liquid biopsy provide earlier detection that potentially leads to better outcomes? Also, can offering liquid biopsy improve access to care for people experiencing barriers to access (such as minority populations or people in rural areas)?

At baseline, participants will be asked to:

* Complete surveys to provide their demographic and NF1-related health information.
* Report whether or not they are experiencing MPNST-related symptoms.
* Provide blood samples (15 mL blood total between three tubes, which is approximately one tablespoon).

Every six months during the five-year follow-up period, participants will be asked to:

* Complete additional surveys to report whether or not they are experiencing MPNST-related symptoms and/or if they have been diagnosed with a new MPNST.
* Provide an additional blood sample (10 mL blood total in one tube).

If diagnosed with an MPNST by their healthcare provider during the follow-up period, participants will be asked to:

* Complete an additional survey regarding their diagnosis and symptoms.
* Provide an additional blood sample (10 mL blood in one tube).
* In parallel, the study team will request a sample of tumor tissue from the care provider, if available.

Detailed Description

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Conditions

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Neurofibromatosis Type 1 Neurofibromatosis 1 Plexiform Neurofibroma Plexiform Neurofibromas Malignant Peripheral Nerve Sheath Tumor Malignant Peripheral Nerve Sheath Tumors Atypical Neurofibroma

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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Liquid biopsy for MPNST development

Participants will be asked to complete a blood sample (liquid biopsy) at baseline (15 mL, approximately 1 tablespoon) and every 6 months (10 mL) for the five-year follow-up period.

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

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Inclusion Criteria

* 18 years and older (adults only)
* Neurofibromatosis Type 1 (NF1) diagnosis (2021 Revised Diagnostic Criteria, PMID: 34012067)
* History of plexiform neurofibroma (PN)
* Able to read and understand English or Spanish
* Live in the USA

Exclusion Criteria

* Are children (younger than 18 years old)
* Do not have NF1
* Have no evidence of PN
* Are not able to read and understand English or Spanish
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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David Miller

OTHER

Sponsor Role lead

Responsible Party

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David Miller

Principal Investigator

Responsibility Role SPONSOR_INVESTIGATOR

Principal Investigators

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David T Miller, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Boston Children's Hospital

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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David T Miller, MD, PhD

Role: CONTACT

617-355-8221

Devika Kumar

Role: CONTACT

6173554517

Facility Contacts

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David T Miller, MD, PhD

Role: primary

617-355-8221

References

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Miettinen MM, Antonescu CR, Fletcher CDM, Kim A, Lazar AJ, Quezado MM, Reilly KM, Stemmer-Rachamimov A, Stewart DR, Viskochil D, Widemann B, Perry A. Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. Hum Pathol. 2017 Sep;67:1-10. doi: 10.1016/j.humpath.2017.05.010. Epub 2017 May 24.

Reference Type BACKGROUND
PMID: 28551330 (View on PubMed)

Klein EA, Richards D, Cohn A, Tummala M, Lapham R, Cosgrove D, Chung G, Clement J, Gao J, Hunkapiller N, Jamshidi A, Kurtzman KN, Seiden MV, Swanton C, Liu MC. Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set. Ann Oncol. 2021 Sep;32(9):1167-1177. doi: 10.1016/j.annonc.2021.05.806. Epub 2021 Jun 24.

Reference Type BACKGROUND
PMID: 34176681 (View on PubMed)

Chaudhuri AA, Chabon JJ, Lovejoy AF, Newman AM, Stehr H, Azad TD, Khodadoust MS, Esfahani MS, Liu CL, Zhou L, Scherer F, Kurtz DM, Say C, Carter JN, Merriott DJ, Dudley JC, Binkley MS, Modlin L, Padda SK, Gensheimer MF, West RB, Shrager JB, Neal JW, Wakelee HA, Loo BW Jr, Alizadeh AA, Diehn M. Early Detection of Molecular Residual Disease in Localized Lung Cancer by Circulating Tumor DNA Profiling. Cancer Discov. 2017 Dec;7(12):1394-1403. doi: 10.1158/2159-8290.CD-17-0716. Epub 2017 Sep 24.

Reference Type BACKGROUND
PMID: 28899864 (View on PubMed)

Pemov A, Li H, Presley W, Wallace MR, Miller DT. Genetics of human malignant peripheral nerve sheath tumors. Neurooncol Adv. 2019 Nov 28;2(Suppl 1):i50-i61. doi: 10.1093/noajnl/vdz049. eCollection 2020 Jul.

Reference Type BACKGROUND
PMID: 32642732 (View on PubMed)

Cortes-Ciriano I, Steele CD, Piculell K, Al-Ibraheemi A, Eulo V, Bui MM, Chatzipli A, Dickson BC, Borcherding DC, Feber A, Galor A, Hart J, Jones KB, Jordan JT, Kim RH, Lindsay D, Miller C, Nishida Y, Proszek PZ, Serrano J, Sundby RT, Szymanski JJ, Ullrich NJ, Viskochil D, Wang X, Snuderl M, Park PJ, Flanagan AM, Hirbe AC, Pillay N, Miller DT; Genomics of MPNST (GeM) Consortium. Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA. Cancer Discov. 2023 Mar 1;13(3):654-671. doi: 10.1158/2159-8290.CD-22-0786.

Reference Type BACKGROUND
PMID: 36598417 (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)

Pemov A, Li H, Patidar R, Hansen NF, Sindiri S, Hartley SW, Wei JS, Elkahloun A, Chandrasekharappa SC; NISC Comparative Sequencing Program; Boland JF, Bass S; NCI DCEG Cancer Genomics Research Laboratory; Mullikin JC, Khan J, Widemann BC, Wallace MR, Stewart DR. The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas. Oncogene. 2017 Jun 1;36(22):3168-3177. doi: 10.1038/onc.2016.464. Epub 2017 Jan 9.

Reference Type BACKGROUND
PMID: 28068329 (View on PubMed)

Related Links

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https://www.nfresearch-childrens.org/

Neurofibromatosis Type 1 Tumor Early Detection (NF1-TED) Study Page

Other Identifiers

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23-380

Identifier Type: OTHER

Identifier Source: secondary_id

23-380

Identifier Type: -

Identifier Source: org_study_id

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